nsv4439391
- 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:3,926
- 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: 493 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 303 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 495 SVs from 85 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4439391 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 108,190,704 | 108,194,629 |
| nsv4439391 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017852928.1 | Chr1|NW_01 7852928.1 | 202,874 | 206,799 |
| nsv4439391 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 108,733,326 | 108,737,251 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15761535 | delins | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15761535 | Remapped | Perfect | NW_017852928.1:g.2 02874_206799delins AAATAAAATAATTTTAT | GRCh38.p12 | Second Pass | NW_017852928.1 | Chr1|NW_01 7852928.1 | 202,874 | 206,799 |
| nssv15761535 | Remapped | Perfect | NC_000001.11:g.108 190704_108194629de linsAAATAAAATAATTT TAT | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 108,190,704 | 108,194,629 |
| nssv15761535 | Submitted genomic | NC_000001.10:g.108 733326_108737251de linsAAATAAAATAATTT TAT | GRCh37 (hg19) | NC_000001.10 | Chr1 | 108,733,326 | 108,737,251 |