nsv6239644
- Organism: Homo sapiens
- Study:nstd215 (Prakrithi et al. 2022)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Prakrithi et al. 2022
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: 94 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 94 SVs from 21 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6239644 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 120,958,542 | 120,958,542 | ||
nsv6239644 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 120,598,596 | 120,598,596 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17839740 | alu insertion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17839740 | Submitted genomic | NC_000007.14:g.120 958542_120958543in s280 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 120,958,542 | 120,958,542 | ||
nssv17839740 | Remapped | Perfect | NC_000007.13:g.120 598596_120598597in s280 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 120,598,596 | 120,598,596 |