nsv4369336
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:45,120
- 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: 1258 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 1258 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4369336 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 257,065 | 302,184 |
nsv4369336 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 257,065 | 302,184 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15617068 | copy number loss | 1-0857-003 | SNP array | Genotyping | 14 |
nssv15664875 | copy number loss | 6-0451-003 | SNP array | Genotyping | 28 |
nssv15678324 | copy number gain | 192217 | SNP array | Genotyping | 19 |
nssv15696248 | copy number loss | 157170 | SNP array | Genotyping | 15 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15617068 | Remapped | Perfect | NC_000006.12:g.(?_ 257065)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,065 | 302,184 |
nssv15664875 | Remapped | Perfect | NC_000006.12:g.(?_ 257065)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,065 | 302,184 |
nssv15678324 | Remapped | Perfect | NC_000006.12:g.(?_ 257065)_(302184_?) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,065 | 302,184 |
nssv15696248 | Remapped | Perfect | NC_000006.12:g.(?_ 257065)_(302184_?) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 257,065 | 302,184 |
nssv15617068 | Submitted genomic | NC_000006.11:g.(?_ 257065)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,065 | 302,184 | ||
nssv15664875 | Submitted genomic | NC_000006.11:g.(?_ 257065)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,065 | 302,184 | ||
nssv15678324 | Submitted genomic | NC_000006.11:g.(?_ 257065)_(302184_?) dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,065 | 302,184 | ||
nssv15696248 | Submitted genomic | NC_000006.11:g.(?_ 257065)_(302184_?) del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 257,065 | 302,184 |