nsv4449603
- 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=SIMPLEINS
- 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: 400 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 400 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4449603 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,589,948 | 241,589,948 |
| nsv4449603 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,529,363 | 242,529,363 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15759548 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15759548 | Remapped | Perfect | NC_000002.12:g.241 589948_241589949in s1516 | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,589,948 | 241,589,948 |
| nssv15759548 | Submitted genomic | NC_000002.11:g.242 529363_242529364in s1516 | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,529,363 | 242,529,363 |