nsv4449594
- Organism: Homo sapiens
- Study:nstd175 (Genome in a Bottle)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:SVTYPE=INS;REPTYPE=DUP
- 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: 169 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4449594 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 232,369,098 | 232,369,098 |
| nsv4449594 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 232,504,844 | 232,504,844 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15764635 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15764635 | Remapped | Perfect | NC_000001.11:g.232 369098_232369099in s88 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 232,369,098 | 232,369,098 |
| nssv15764635 | Submitted genomic | NC_000001.10:g.232 504844_232504845in s88 | GRCh37 (hg19) | NC_000001.10 | Chr1 | 232,504,844 | 232,504,844 |