nsv3118318
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:38
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,535
- Publication(s):Lu et al. 2017
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 288 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 288 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3118318 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nsv3118318 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14082884 | deletion | sample171 | Oligo aCGH | Probe signal intensity | 83 |
| nssv14083488 | deletion | sample156 | Oligo aCGH | Probe signal intensity | 83 |
| nssv14084536 | deletion | sample161 | Oligo aCGH | Probe signal intensity | 56 |
| nssv14085413 | deletion | sample200 | Oligo aCGH | Probe signal intensity | 73 |
| nssv14085570 | deletion | sample203 | Oligo aCGH | Probe signal intensity | 88 |
| nssv14086026 | deletion | sample225 | Oligo aCGH | Probe signal intensity | 65 |
| nssv14086270 | deletion | sample231 | Oligo aCGH | Probe signal intensity | 100 |
| nssv14087998 | deletion | sample246 | Oligo aCGH | Probe signal intensity | 86 |
| nssv14090083 | deletion | sample259 | Oligo aCGH | Probe signal intensity | 86 |
| nssv14090379 | deletion | sample289 | Oligo aCGH | Probe signal intensity | 79 |
| nssv14091041 | deletion | sample274 | Oligo aCGH | Probe signal intensity | 73 |
| nssv14093281 | deletion | sample30 | Oligo aCGH | Probe signal intensity | 21 |
| nssv14093315 | deletion | sample309 | Oligo aCGH | Probe signal intensity | 93 |
| nssv14094117 | deletion | sample322 | Oligo aCGH | Probe signal intensity | 79 |
| nssv14094743 | deletion | sample130 | Oligo aCGH | Probe signal intensity | 92 |
| nssv14095090 | deletion | sample333 | Oligo aCGH | Probe signal intensity | 18 |
| nssv14095200 | deletion | sample32 | Oligo aCGH | Probe signal intensity | 87 |
| nssv14095558 | deletion | sample329 | Oligo aCGH | Probe signal intensity | 78 |
| nssv14097866 | deletion | sample4 | Oligo aCGH | Probe signal intensity | 66 |
| nssv14098182 | deletion | sample356 | Oligo aCGH | Probe signal intensity | 27 |
| nssv14098404 | deletion | sample359 | Oligo aCGH | Probe signal intensity | 103 |
| nssv14098893 | deletion | sample368 | Oligo aCGH | Probe signal intensity | 80 |
| nssv14100543 | deletion | sample395 | Oligo aCGH | Probe signal intensity | 85 |
| nssv14100751 | deletion | sample409 | Oligo aCGH | Probe signal intensity | 46 |
| nssv14100886 | deletion | sample411 | Oligo aCGH | Probe signal intensity | 70 |
| nssv14101123 | deletion | sample387 | Oligo aCGH | Probe signal intensity | 78 |
| nssv14101190 | deletion | sample389 | Oligo aCGH | Probe signal intensity | 21 |
| nssv14102317 | deletion | sample43 | Oligo aCGH | Probe signal intensity | 92 |
| nssv14102740 | deletion | sample419 | Oligo aCGH | Probe signal intensity | 76 |
| nssv14102901 | deletion | sample400 | Oligo aCGH | Probe signal intensity | 92 |
| nssv14102920 | deletion | sample424 | Oligo aCGH | Probe signal intensity | 70 |
| nssv14106431 | deletion | sample81 | Oligo aCGH | Probe signal intensity | 106 |
| nssv14106642 | deletion | sample83 | Oligo aCGH | Probe signal intensity | 88 |
| nssv14107056 | deletion | sample90 | Oligo aCGH | Probe signal intensity | 91 |
| nssv14107116 | deletion | sample100 | Oligo aCGH | Probe signal intensity | 75 |
| nssv14107449 | deletion | sample104 | Oligo aCGH | Probe signal intensity | 49 |
| nssv14107606 | deletion | sample108 | Oligo aCGH | Probe signal intensity | 66 |
| nssv14108163 | deletion | sample87 | Oligo aCGH | Probe signal intensity | 74 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14082884 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14083488 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14084536 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14085413 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14085570 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14086026 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14086270 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14087998 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14090083 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14090379 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14091041 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14093281 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14093315 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14094117 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14094743 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14095090 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14095200 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14095558 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14097866 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14098182 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14098404 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14098893 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14100543 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14100751 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14100886 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14101123 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14101190 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14102317 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14102740 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14102901 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14102920 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14106431 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14106642 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14107056 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14107116 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14107449 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14107606 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14108163 | Remapped | Perfect | NC_000001.11:g.(?_ 84247300)_(8424983 4_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 84,247,300 | 84,249,834 |
| nssv14082884 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14083488 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14084536 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14085413 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14085570 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14086026 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14086270 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14087998 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14090083 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14090379 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14091041 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14093281 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14093315 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14094117 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14094743 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14095090 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14095200 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14095558 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14097866 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14098182 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14098404 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14098893 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14100543 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14100751 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14100886 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14101123 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14101190 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14102317 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14102740 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14102901 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14102920 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14106431 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14106642 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14107056 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14107116 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14107449 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14107606 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 | ||
| nssv14108163 | Submitted genomic | NC_000001.10:g.(?_ 84712983)_(8471551 7_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,712,983 | 84,715,517 |