nsv4449601
- 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: 340 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 340 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4449601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,355,439 | 241,355,439 |
| nsv4449601 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,294,854 | 242,294,854 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15759547 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15759547 | Remapped | Perfect | NC_000002.12:g.241 355439_241355440in s293 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,355,439 | 241,355,439 |
| nssv15759547 | Submitted genomic | NC_000002.11:g.242 294854_242294855in s293 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,294,854 | 242,294,854 |