nsv3565023
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a SVA mobile element relative to the reference
- Publication(s):Chaisson et al. 2019
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: 146 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 36 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3565023 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 24,409,092 (-15, +15) | 24,409,092 (-15, +15) | ||
nsv3565023 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 24,448,711 (-15, +15) | 24,448,711 (-15, +15) |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14333141 | Submitted genomic | NC_000007.14:g.(24 409077_24409107)_( 24409077_24409107) ins1240 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 24,409,092 (-15, +15) | 24,409,092 (-15, +15) | ||
nssv14333142 | Submitted genomic | NC_000007.14:g.(24 409077_24409107)_( 24409077_24409107) ins1240 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 24,409,092 (-15, +15) | 24,409,092 (-15, +15) | ||
nssv14333141 | Remapped | Perfect | NC_000007.13:g.(24 448696_24448726)_( 24448696_24448726) ins1240 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 24,448,711 (-15, +15) | 24,448,711 (-15, +15) |
nssv14333142 | Remapped | Perfect | NC_000007.13:g.(24 448696_24448726)_( 24448696_24448726) ins1240 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 24,448,711 (-15, +15) | 24,448,711 (-15, +15) |