nsv4446448
- Organism: Homo sapiens
- Study:nstd175 (Genome in a Bottle)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:21,761
- Description:SVTYPE=DEL;REPTYPE=SIMPLEDEL
- Publication(s):Genome in a Bottle
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: 465 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 465 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4446448 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 76,727,407 | 76,749,167 |
| nsv4446448 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 77,437,124 | 77,458,884 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15761170 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15761170 | Remapped | Perfect | NC_000006.12:g.767 27407_76749167del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 76,727,407 | 76,749,167 |
| nssv15761170 | Submitted genomic | NC_000006.11:g.774 37124_77458884del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 77,437,124 | 77,458,884 |