nsv6622117
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:29
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,482
- Publication(s):Zarrei et al. 2023
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: 447 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 447 SVs from 58 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622117 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nsv6622117 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281718 | duplication | OSC2108 | SNP array | Probe signal intensity | nssv18281717, nssv18281719, nssv18282352 |
| nssv18282912 | duplication | OSC0236 | SNP array | Probe signal intensity | 7 |
| nssv18283027 | duplication | OSC2382 | SNP array | Probe signal intensity | 6 |
| nssv18283783 | duplication | OSC2268 | SNP array | Probe signal intensity | 7 |
| nssv18283962 | duplication | OSC2391 | SNP array | Probe signal intensity | nssv18283959, nssv18283960, nssv18283961 |
| nssv18284134 | duplication | OSC2503 | SNP array | Probe signal intensity | 6 |
| nssv18284281 | duplication | OSC2611 | SNP array | Probe signal intensity | 7 |
| nssv18288187 | duplication | OSC3222 | SNP array | Probe signal intensity | 6 |
| nssv18288367 | duplication | OSC3345 | SNP array | Probe signal intensity | 7 |
| nssv18290307 | duplication | OSC3591 | SNP array | Probe signal intensity | 8 |
| nssv18290836 | duplication | OSC3808 | SNP array | Probe signal intensity | 5 |
| nssv18291587 | duplication | OSC3845 | SNP array | Probe signal intensity | 5 |
| nssv18293292 | duplication | OSC0436 | SNP array | Probe signal intensity | nssv18293630, nssv18294560 |
| nssv18293506 | duplication | OSC4131 | SNP array | Probe signal intensity | 8 |
| nssv18294983 | duplication | OSC4297 | SNP array | Probe signal intensity | 5 |
| nssv18295479 | duplication | OSC0478 | SNP array | Probe signal intensity | 6 |
| nssv18296114 | duplication | OSC4463 | SNP array | Probe signal intensity | 5 |
| nssv18296268 | duplication | OSC4572 | SNP array | Probe signal intensity | 8 |
| nssv18300203 | duplication | OSC0556 | SNP array | Probe signal intensity | 11 |
| nssv18301548 | duplication | OSC0590 | SNP array | Probe signal intensity | nssv18301543, nssv18302146, nssv18302409 |
| nssv18320721 | duplication | OSC0107 | SNP array | Probe signal intensity | 8 |
| nssv18321068 | duplication | OSC1137 | SNP array | Probe signal intensity | nssv18321067, nssv18321069, nssv18321437 |
| nssv18323215 | duplication | OSC1347 | SNP array | Probe signal intensity | nssv18322675, nssv18322676, nssv18323216 |
| nssv18323487 | duplication | OSC1533 | SNP array | Probe signal intensity | 5 |
| nssv18323532 | duplication | OSC1572 | SNP array | Probe signal intensity | 7 |
| nssv18324025 | duplication | OSC1664 | SNP array | Probe signal intensity | 7 |
| nssv18325038 | duplication | OSC1969 | SNP array | Probe signal intensity | 6 |
| nssv18325200 | duplication | OSC1835 | SNP array | Probe signal intensity | 11 |
| nssv18326149 | duplication | OSC1953 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281718 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18282912 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18283027 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18283783 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18283962 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18284134 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18284281 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18288187 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18288367 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18290307 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18290836 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18291587 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18293292 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18293506 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18294983 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18295479 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18296114 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18296268 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18300203 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18301548 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18320721 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18321068 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18323215 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18323487 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18323532 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18324025 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18325038 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18325200 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18326149 | Remapped | Perfect | NC_000013.11:g.(?_ 19851399)_(1986588 0_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 19,851,399 | 19,865,880 |
| nssv18281718 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18282912 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18283027 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18283783 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18283962 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18284134 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18284281 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18288187 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18288367 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18290307 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18290836 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18291587 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18293292 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18293506 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18294983 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18295479 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18296114 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18296268 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18300203 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18301548 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18320721 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18321068 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18323215 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18323487 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18323532 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18324025 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18325038 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18325200 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 | ||
| nssv18326149 | Submitted genomic | NC_000013.10:g.(?_ 20425539)_(2044002 0_?)dup | GRCh37 (hg19) | NC_000013.10 | Chr13 | 20,425,539 | 20,440,020 |