nsv6625613
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:50,236
- 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: 1457 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 545 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 1448 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6625613 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 12,811,188 | 12,861,423 |
| nsv6625613 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 1 | 42,936 |
| nsv6625613 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,871,327 | 12,921,278 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18282269 | deletion | OSC2048 | SNP array | Probe signal intensity | 5 |
| nssv18284353 | deletion | OSC2656 | SNP array | Probe signal intensity | 7 |
| nssv18286750 | deletion | OSC3042 | SNP array | Probe signal intensity | 7 |
| nssv18287676 | deletion | OSC3063 | SNP array | Probe signal intensity | nssv18286780, nssv18287349, nssv18287675 |
| nssv18292446 | deletion | OSC3816 | SNP array | Probe signal intensity | 5 |
| nssv18320630 | deletion | OSC1016 | SNP array | Probe signal intensity | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18282269 | Remapped | Pass | NW_012132914.1:g.( ?_1)_(42936_?)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 1 | 42,936 |
| nssv18284353 | Remapped | Pass | NW_012132914.1:g.( ?_1)_(42936_?)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 1 | 42,936 |
| nssv18286750 | Remapped | Pass | NW_012132914.1:g.( ?_1)_(42936_?)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 1 | 42,936 |
| nssv18287676 | Remapped | Pass | NW_012132914.1:g.( ?_1)_(42936_?)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 1 | 42,936 |
| nssv18292446 | Remapped | Pass | NW_012132914.1:g.( ?_1)_(42936_?)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 1 | 42,936 |
| nssv18320630 | Remapped | Pass | NW_012132914.1:g.( ?_1)_(42936_?)del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 1 | 42,936 |
| nssv18282269 | Remapped | Good | NC_000001.11:g.(?_ 12811188)_(1286142 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,811,188 | 12,861,423 |
| nssv18284353 | Remapped | Good | NC_000001.11:g.(?_ 12811188)_(1286142 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,811,188 | 12,861,423 |
| nssv18286750 | Remapped | Good | NC_000001.11:g.(?_ 12811188)_(1286142 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,811,188 | 12,861,423 |
| nssv18287676 | Remapped | Good | NC_000001.11:g.(?_ 12811188)_(1286142 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,811,188 | 12,861,423 |
| nssv18292446 | Remapped | Good | NC_000001.11:g.(?_ 12811188)_(1286142 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,811,188 | 12,861,423 |
| nssv18320630 | Remapped | Good | NC_000001.11:g.(?_ 12811188)_(1286142 3_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,811,188 | 12,861,423 |
| nssv18282269 | Submitted genomic | NC_000001.10:g.(?_ 12871327)_(1292127 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,871,327 | 12,921,278 | ||
| nssv18284353 | Submitted genomic | NC_000001.10:g.(?_ 12871327)_(1292127 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,871,327 | 12,921,278 | ||
| nssv18286750 | Submitted genomic | NC_000001.10:g.(?_ 12871327)_(1292127 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,871,327 | 12,921,278 | ||
| nssv18287676 | Submitted genomic | NC_000001.10:g.(?_ 12871327)_(1292127 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,871,327 | 12,921,278 | ||
| nssv18292446 | Submitted genomic | NC_000001.10:g.(?_ 12871327)_(1292127 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,871,327 | 12,921,278 | ||
| nssv18320630 | Submitted genomic | NC_000001.10:g.(?_ 12871327)_(1292127 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,871,327 | 12,921,278 |