nsv6006380
- Organism: Homo sapiens
- Study:nstd212 (Wu et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:435,737
- Publication(s):Wu et al. 2021
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: 1743 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1743 SVs from 93 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6006380 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 125,788,031 | 126,223,767 | ||
| nsv6006380 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 125,428,085 | 125,863,821 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17568478 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17568478 | Submitted genomic | NC_000007.14:g.125 788031_126223767de l | GRCh38 (hg38) | NC_000007.14 | Chr7 | 125,788,031 | 126,223,767 | ||
| nssv17568478 | Remapped | Perfect | NC_000007.13:g.125 428085_125863821de l | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 125,428,085 | 125,863,821 |