nsv4380843
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:108,407
- 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: 1699 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1699 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4380843 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nsv4380843 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15634003 | copy number gain | 11-0021-001 | SNP array | Genotyping | 27 |
| nssv15637436 | copy number gain | 13-0095-002 | SNP array | Genotyping | 22 |
| nssv15665707 | copy number gain | 7-0085-003 | SNP array | Genotyping | 22 |
| nssv15672593 | copy number loss | 9-0011-001 | SNP array | Genotyping | 18 |
| nssv15677226 | copy number loss | 237799S | SNP array | Genotyping | 26 |
| nssv15682154 | copy number gain | 219366 | SNP array | Genotyping | 19 |
| nssv15685524 | copy number loss | OCD128-8961012 | SNP array | Genotyping | 24 |
| nssv15688085 | copy number gain | 208024 | SNP array | Genotyping | 13 |
| nssv15695896 | copy number gain | 214792 | SNP array | Genotyping | 22 |
| nssv15701677 | copy number gain | 225368 | SNP array | Genotyping | 31 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15634003 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867857 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nssv15637436 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867857 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nssv15665707 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867857 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nssv15672593 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867857 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nssv15677226 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867857 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nssv15682154 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867857 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nssv15685524 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867857 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nssv15688085 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867857 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nssv15695896 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867857 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nssv15701677 | Remapped | Perfect | NC_000004.12:g.(?_ 68570171)_(6867857 7_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,570,171 | 68,678,577 |
| nssv15634003 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6954429 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 | ||
| nssv15637436 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6954429 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 | ||
| nssv15665707 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6954429 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 | ||
| nssv15672593 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6954429 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 | ||
| nssv15677226 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6954429 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 | ||
| nssv15682154 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6954429 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 | ||
| nssv15685524 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6954429 5_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 | ||
| nssv15688085 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6954429 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 | ||
| nssv15695896 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6954429 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 | ||
| nssv15701677 | Submitted genomic | NC_000004.11:g.(?_ 69435889)_(6954429 5_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 69,435,889 | 69,544,295 |