nsv4439345
- Organism: Homo sapiens
- Study:nstd175 (Genome in a Bottle)
- Variant Type:delins
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,207
- Description:SVTYPE=DEL;REPTYPE=SUBSDEL
- 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: 474 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 479 SVs from 70 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4439345 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 247,888,191 | 247,894,397 |
| nsv4439345 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 248,051,493 | 248,057,699 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15767874 | delins | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15767874 | Remapped | Perfect | NC_000001.11:g.247 888191_247894397de lins209 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 247,888,191 | 247,894,397 |
| nssv15767874 | Submitted genomic | NC_000001.10:g.248 051493_248057699de lins209 | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,051,493 | 248,057,699 |