nsv1076628
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,502
- Publication(s):Thareja et al. 2015
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: 280 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 280 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1076628 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 100,994,618 | 101,004,119 |
| nsv1076628 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 100,637,899 | 100,647,400 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3773076 | duplication | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3773076 | Remapped | Perfect | NC_000007.14:g.100 994618_101004119du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 100,994,618 | 101,004,119 |
| nssv3773076 | Submitted genomic | NC_000007.13:g.100 637899_100647400du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,637,899 | 100,647,400 |