nsv3117920
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:33
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,099
- 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: 199 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 42 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3117920 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nsv3117920 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14097623 | deletion | sample203 | Oligo aCGH | Probe signal intensity | 88 |
| nssv14097671 | deletion | sample223 | Oligo aCGH | Probe signal intensity | 49 |
| nssv14097696 | deletion | sample235 | Oligo aCGH | Probe signal intensity | 64 |
| nssv14097702 | deletion | sample238 | Oligo aCGH | Probe signal intensity | 68 |
| nssv14097716 | deletion | sample246 | Oligo aCGH | Probe signal intensity | 86 |
| nssv14097806 | deletion | sample295 | Oligo aCGH | Probe signal intensity | 77 |
| nssv14097946 | deletion | sample3 | Oligo aCGH | Probe signal intensity | 96 |
| nssv14097963 | deletion | sample11 | Oligo aCGH | Probe signal intensity | 90 |
| nssv14097992 | deletion | sample32 | Oligo aCGH | Probe signal intensity | 87 |
| nssv14098021 | deletion | sample45 | Oligo aCGH | Probe signal intensity | 79 |
| nssv14098044 | deletion | sample54 | Oligo aCGH | Probe signal intensity | 86 |
| nssv14098066 | deletion | sample60 | Oligo aCGH | Probe signal intensity | 87 |
| nssv14098477 | deletion | sample312 | Oligo aCGH | Probe signal intensity | 89 |
| nssv14098489 | deletion | sample318 | Oligo aCGH | Probe signal intensity | 88 |
| nssv14098566 | deletion | sample358 | Oligo aCGH | Probe signal intensity | 77 |
| nssv14098586 | deletion | sample361 | Oligo aCGH | Probe signal intensity | 80 |
| nssv14098600 | deletion | sample366 | Oligo aCGH | Probe signal intensity | 60 |
| nssv14098607 | deletion | sample369 | Oligo aCGH | Probe signal intensity | 84 |
| nssv14098637 | deletion | sample381 | Oligo aCGH | Probe signal intensity | 56 |
| nssv14098651 | deletion | sample387 | Oligo aCGH | Probe signal intensity | 78 |
| nssv14098655 | deletion | sample392 | Oligo aCGH | Probe signal intensity | 75 |
| nssv14098666 | deletion | sample396 | Oligo aCGH | Probe signal intensity | 78 |
| nssv14098695 | deletion | sample410 | Oligo aCGH | Probe signal intensity | 83 |
| nssv14098699 | deletion | sample411 | Oligo aCGH | Probe signal intensity | 70 |
| nssv14098756 | deletion | sample88 | Oligo aCGH | Probe signal intensity | 71 |
| nssv14098767 | deletion | sample90 | Oligo aCGH | Probe signal intensity | 91 |
| nssv14098784 | deletion | sample96 | Oligo aCGH | Probe signal intensity | 82 |
| nssv14098795 | deletion | sample101 | Oligo aCGH | Probe signal intensity | 68 |
| nssv14098808 | deletion | sample108 | Oligo aCGH | Probe signal intensity | 66 |
| nssv14098855 | deletion | sample125 | Oligo aCGH | Probe signal intensity | 70 |
| nssv14098912 | deletion | sample154 | Oligo aCGH | Probe signal intensity | 79 |
| nssv14098923 | deletion | sample158 | Oligo aCGH | Probe signal intensity | 80 |
| nssv14098930 | deletion | sample160 | Oligo aCGH | Probe signal intensity | 90 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14097623 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14097671 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14097696 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14097702 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14097716 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14097806 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14097946 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14097963 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14097992 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098021 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098044 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098066 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098477 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098489 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098566 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098586 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098600 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098607 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098637 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098651 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098655 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098666 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098695 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098699 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098756 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098767 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098784 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098795 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098808 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098855 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098912 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098923 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14098930 | Remapped | Perfect | NC_000017.11:g.(?_ 52039770)_(5204886 8_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,039,770 | 52,048,868 |
| nssv14097623 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14097671 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14097696 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14097702 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14097716 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14097806 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14097946 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14097963 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14097992 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098021 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098044 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098066 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098477 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098489 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098566 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098586 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098600 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098607 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098637 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098651 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098655 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098666 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098695 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098699 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098756 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098767 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098784 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098795 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098808 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098855 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098912 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098923 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 | ||
| nssv14098930 | Submitted genomic | NC_000017.10:g.(?_ 50117130)_(5012622 8_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,117,130 | 50,126,228 |