nsv4448424
- 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:13,330
- 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: 568 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 568 SVs from 86 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4448424 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 134,100,247 | 134,113,576 |
| nsv4448424 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 133,785,000 | 133,798,329 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15762296 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15762296 | Remapped | Perfect | NC_000007.14:g.134 100247_134113576de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 134,100,247 | 134,113,576 |
| nssv15762296 | Submitted genomic | NC_000007.13:g.133 785000_133798329de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 133,785,000 | 133,798,329 |