nsv4440787
- 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:3,903
- 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: 210 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4440787 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 32,937,681 | 32,941,583 |
| nsv4440787 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 31,525,487 | 31,529,389 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15759558 | delins | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15759558 | Remapped | Perfect | NC_000020.11:g.329 37681_32941583deli nsGTGGAGTAC | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 32,937,681 | 32,941,583 |
| nssv15759558 | Submitted genomic | NC_000020.10:g.315 25487_31529389deli nsGTGGAGTAC | GRCh37 (hg19) | NC_000020.10 | Chr20 | 31,525,487 | 31,529,389 |