nsv461977
- Organism: Homo sapiens
- Study:nstd27 (Itsara et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:450,759
- Publication(s):Itsara et al. 2009
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: 1264 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 1264 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 93 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv461977 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 11,571,828 | 12,022,586 |
| nsv461977 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 11,571,940 | 12,022,698 |
| nsv461977 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 11,624,940 | 12,075,698 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv639219 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv639219 | Remapped | Perfect | NC_000005.10:g.(?_ 11571828)_(1202258 6_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 11,571,828 | 12,022,586 |
| nssv639219 | Remapped | Perfect | NC_000005.9:g.(?_1 1571940)_(12022698 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 11,571,940 | 12,022,698 |
| nssv639219 | Submitted genomic | NC_000005.8:g.(?_1 1624940)_(12075698 _?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 11,624,940 | 12,075,698 |