nsv4380190
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:32
- Validation:Not tested
- Clinical Assertions: No
- Region Size:55,058
- Publication(s):Zarrei et al. 2019
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: 528 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 556 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4380190 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nsv4380190 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612008 | copy number loss | 1-0640-003 | SNP array | Genotyping | 19 |
| nssv15613251 | copy number loss | 1-0680-003 | SNP array | Genotyping | 24 |
| nssv15615158 | copy number gain | 1-0750-003 | SNP array | Genotyping | 20 |
| nssv15621084 | copy number gain | 1-0190-001 | SNP array | Genotyping | 23 |
| nssv15621732 | copy number gain | 1-1009-003 | SNP array | Genotyping | 22 |
| nssv15629788 | copy number loss | 1-0578-003 | SNP array | Genotyping | 24 |
| nssv15631340 | copy number loss | 1-0622-003 | SNP array | Genotyping | 22 |
| nssv15636043 | copy number gain | 13-0099-001 | SNP array | Genotyping | 20 |
| nssv15636536 | copy number gain | 13-0132-002 | SNP array | Genotyping | 26 |
| nssv15637998 | copy number gain | 14-0062-001 | SNP array | Genotyping | 19 |
| nssv15638403 | copy number loss | 14-0135-002 | SNP array | Genotyping | 16 |
| nssv15638714 | copy number loss | 14-0010-004 | SNP array | Genotyping | 15 |
| nssv15656401 | copy number loss | 2-1717-003 | SNP array | Genotyping | 17 |
| nssv15658601 | copy number loss | 3-0539-000 | SNP array | Genotyping | 18 |
| nssv15659244 | copy number gain | 4-0074-002 | SNP array | Genotyping | 20 |
| nssv15661341 | copy number loss | 5-0068-001 | SNP array | Genotyping | 17 |
| nssv15661761 | copy number loss | 4-0035-003 | SNP array | Genotyping | 25 |
| nssv15666331 | copy number loss | 7-0069-003 | SNP array | Genotyping | 21 |
| nssv15680158 | copy number loss | 222682 | SNP array | Genotyping | 24 |
| nssv15680696 | copy number loss | 215271 | SNP array | Genotyping | 21 |
| nssv15681725 | copy number loss | OCD1009-S_0625-6223-2 | SNP array | Genotyping | 24 |
| nssv15683070 | copy number loss | 238146S | SNP array | Genotyping | 16 |
| nssv15683324 | copy number loss | OCD101-1651 | SNP array | Genotyping | 17 |
| nssv15683451 | copy number loss | OCD124-B_188563 | SNP array | Genotyping | 28 |
| nssv15683601 | copy number loss | OCD130-8961053 | SNP array | Genotyping | 23 |
| nssv15686245 | copy number loss | OCD21-S_896393 | SNP array | Genotyping | 19 |
| nssv15686724 | copy number loss | OCD24-S_896442 | SNP array | Genotyping | 17 |
| nssv15695845 | copy number loss | 212972 | SNP array | Genotyping | 20 |
| nssv15696290 | copy number loss | 157178 | SNP array | Genotyping | 19 |
| nssv15697839 | copy number loss | 194735 | SNP array | Genotyping | 21 |
| nssv15698964 | copy number loss | 187369 | SNP array | Genotyping | 17 |
| nssv15701629 | copy number gain | 223694 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612008 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15613251 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15615158 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15621084 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15621732 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15629788 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15631340 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15636043 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15636536 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15637998 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15638403 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15638714 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15656401 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15658601 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15659244 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15661341 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15661761 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15666331 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15680158 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15680696 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15681725 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15683070 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15683324 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15683451 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15683601 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15686245 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15686724 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15695845 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15696290 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15697839 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15698964 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15701629 | Remapped | Pass | NC_000002.12:g.(?_ 97490656)_(9754571 3_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,490,656 | 97,545,713 |
| nssv15612008 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15613251 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15615158 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15621084 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15621732 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15629788 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15631340 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15636043 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15636536 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15637998 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15638403 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15638714 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15656401 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15658601 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15659244 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15661341 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15661761 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15666331 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15680158 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15680696 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15681725 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15683070 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15683324 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15683451 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15683601 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15686245 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15686724 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15695845 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15696290 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15697839 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15698964 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 | ||
| nssv15701629 | Submitted genomic | NC_000002.11:g.(?_ 98079569)_(9816217 6_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 98,079,569 | 98,162,176 |