nsv465191
- 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:353,522
- 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: 1442 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1442 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv465191 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 146,709,287 | 147,062,808 |
| nsv465191 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 146,406,379 | 146,759,900 |
| nsv465191 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000007.11 | Chr7 | 145,844,027 | 146,197,548 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv642112 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv642112 | Remapped | Perfect | NC_000007.14:g.(?_ 146709287)_(147062 808_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 146,709,287 | 147,062,808 |
| nssv642112 | Remapped | Perfect | NC_000007.13:g.(?_ 146406379)_(146759 900_?)dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 146,406,379 | 146,759,900 |
| nssv642112 | Submitted genomic | NC_000007.11:g.(?_ 145844027)_(146197 548_?)dup | NCBI35 (hg17) | NC_000007.11 | Chr7 | 145,844,027 | 146,197,548 |