nsv3112482
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:23
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,955
- 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: 831 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 668 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 831 SVs from 86 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3112482 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nsv3112482 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nsv3112482 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14089280 | deletion | sample105 | Oligo aCGH | Probe signal intensity | 45 |
| nssv14089354 | deletion | sample119 | Oligo aCGH | Probe signal intensity | 87 |
| nssv14089421 | deletion | sample130 | Oligo aCGH | Probe signal intensity | 92 |
| nssv14090508 | deletion | sample156 | Oligo aCGH | Probe signal intensity | 83 |
| nssv14090565 | deletion | sample163 | Oligo aCGH | Probe signal intensity | 93 |
| nssv14090594 | deletion | sample169 | Oligo aCGH | Probe signal intensity | 90 |
| nssv14090689 | deletion | sample184 | Oligo aCGH | Probe signal intensity | 91 |
| nssv14092095 | deletion | sample209 | Oligo aCGH | Probe signal intensity | 62 |
| nssv14092140 | deletion | sample220 | Oligo aCGH | Probe signal intensity | 73 |
| nssv14092214 | deletion | sample233 | Oligo aCGH | Probe signal intensity | 77 |
| nssv14092350 | deletion | sample262 | Oligo aCGH | Probe signal intensity | 74 |
| nssv14093410 | deletion | sample286 | Oligo aCGH | Probe signal intensity | 84 |
| nssv14093534 | deletion | sample309 | Oligo aCGH | Probe signal intensity | 93 |
| nssv14093574 | deletion | sample316 | Oligo aCGH | Probe signal intensity | 83 |
| nssv14093654 | deletion | sample332 | Oligo aCGH | Probe signal intensity | 69 |
| nssv14094682 | deletion | sample358 | Oligo aCGH | Probe signal intensity | 77 |
| nssv14094730 | deletion | sample364 | Oligo aCGH | Probe signal intensity | 95 |
| nssv14094838 | deletion | sample380 | Oligo aCGH | Probe signal intensity | 98 |
| nssv14094857 | deletion | sample383 | Oligo aCGH | Probe signal intensity | 82 |
| nssv14094923 | deletion | sample395 | Oligo aCGH | Probe signal intensity | 85 |
| nssv14096621 | deletion | sample419 | Oligo aCGH | Probe signal intensity | 76 |
| nssv14107112 | deletion | sample3 | Oligo aCGH | Probe signal intensity | 96 |
| nssv14107679 | deletion | sample98 | Oligo aCGH | Probe signal intensity | 89 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14089280 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14089354 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14089421 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14090508 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14090565 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14090594 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14090689 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14092095 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14092140 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14092214 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14092350 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14093410 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14093534 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14093574 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14093654 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14094682 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14094730 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14094838 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14094857 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14094923 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14096621 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14107112 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14107679 | Remapped | Perfect | NW_003315915.1:g.( ?_271720)_(317674_ ?)del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 271,720 | 317,674 |
| nssv14089280 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14089354 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14089421 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14090508 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14090565 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14090594 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14090689 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14092095 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14092140 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14092214 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14092350 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14093410 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14093534 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14093574 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14093654 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14094682 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14094730 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14094838 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14094857 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14094923 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14096621 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14107112 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14107679 | Remapped | Perfect | NC_000004.12:g.(?_ 34779391)_(3482534 5_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,779,391 | 34,825,345 |
| nssv14089280 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14089354 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14089421 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14090508 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14090565 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14090594 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14090689 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14092095 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14092140 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14092214 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14092350 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14093410 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14093534 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14093574 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14093654 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14094682 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14094730 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14094838 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14094857 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14094923 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14096621 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14107112 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 | ||
| nssv14107679 | Submitted genomic | NC_000004.11:g.(?_ 34781013)_(3482696 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 34,781,013 | 34,826,967 |