nsv6625813
- 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:13,621
- 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: 1123 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 482 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 1121 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6625813 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 12,847,836 | 12,861,456 |
nsv6625813 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,349 | 42,969 |
nsv6625813 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 12,907,689 | 12,921,311 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv18285610 | deletion | OSC0298 | SNP array | Probe signal intensity | 5 |
nssv18285977 | deletion | OSC2716 | SNP array | Probe signal intensity | 6 |
nssv18290456 | deletion | OSC3702 | SNP array | Probe signal intensity | nssv18291046 |
nssv18311107 | deletion | OSC0768 | SNP array | Probe signal intensity | 8 |
nssv18325330 | deletion | OSC0202 | SNP array | Probe signal intensity | 9 |
nssv18325960 | deletion | OSC0206 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18285610 | Remapped | Good | NW_012132914.1:g.( ?_29349)_(42969_?) del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,349 | 42,969 |
nssv18285977 | Remapped | Good | NW_012132914.1:g.( ?_29349)_(42969_?) del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,349 | 42,969 |
nssv18290456 | Remapped | Good | NW_012132914.1:g.( ?_29349)_(42969_?) del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,349 | 42,969 |
nssv18311107 | Remapped | Good | NW_012132914.1:g.( ?_29349)_(42969_?) del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,349 | 42,969 |
nssv18325330 | Remapped | Good | NW_012132914.1:g.( ?_29349)_(42969_?) del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,349 | 42,969 |
nssv18325960 | Remapped | Good | NW_012132914.1:g.( ?_29349)_(42969_?) del | GRCh38.p12 | Second Pass | NW_012132914.1 | Chr1|NW_01 2132914.1 | 29,349 | 42,969 |
nssv18285610 | Remapped | Good | NC_000001.11:g.(?_ 12847836)_(1286145 6_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,847,836 | 12,861,456 |
nssv18285977 | Remapped | Good | NC_000001.11:g.(?_ 12847836)_(1286145 6_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,847,836 | 12,861,456 |
nssv18290456 | Remapped | Good | NC_000001.11:g.(?_ 12847836)_(1286145 6_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,847,836 | 12,861,456 |
nssv18311107 | Remapped | Good | NC_000001.11:g.(?_ 12847836)_(1286145 6_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,847,836 | 12,861,456 |
nssv18325330 | Remapped | Good | NC_000001.11:g.(?_ 12847836)_(1286145 6_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,847,836 | 12,861,456 |
nssv18325960 | Remapped | Good | NC_000001.11:g.(?_ 12847836)_(1286145 6_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 12,847,836 | 12,861,456 |
nssv18285610 | Submitted genomic | NC_000001.10:g.(?_ 12907689)_(1292131 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,907,689 | 12,921,311 | ||
nssv18285977 | Submitted genomic | NC_000001.10:g.(?_ 12907689)_(1292131 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,907,689 | 12,921,311 | ||
nssv18290456 | Submitted genomic | NC_000001.10:g.(?_ 12907689)_(1292131 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,907,689 | 12,921,311 | ||
nssv18311107 | Submitted genomic | NC_000001.10:g.(?_ 12907689)_(1292131 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,907,689 | 12,921,311 | ||
nssv18325330 | Submitted genomic | NC_000001.10:g.(?_ 12907689)_(1292131 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,907,689 | 12,921,311 | ||
nssv18325960 | Submitted genomic | NC_000001.10:g.(?_ 12907689)_(1292131 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 12,907,689 | 12,921,311 |