nsv3564649
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- 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: 893 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 893 SVs from 66 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3564649 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 32,653,252 (-15, +15) | 32,653,252 (-15, +15) | ||
nsv3564649 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 32,621,029 (-15, +15) | 32,621,029 (-15, +15) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14327079 | sva insertion | SAMN00006579 | Sequencing | Sequence alignment | Heterozygous | 13,953 |
nssv14327080 | sva insertion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
nssv14327081 | sva insertion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14327079 | Submitted genomic | NC_000006.12:g.(32 653237_32653267)_( 32653237_32653267) ins859 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 32,653,252 (-15, +15) | 32,653,252 (-15, +15) | ||
nssv14327080 | Submitted genomic | NC_000006.12:g.(32 653237_32653267)_( 32653237_32653267) ins859 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 32,653,252 (-15, +15) | 32,653,252 (-15, +15) | ||
nssv14327081 | Submitted genomic | NC_000006.12:g.(32 653237_32653267)_( 32653237_32653267) ins859 | GRCh38 (hg38) | NC_000006.12 | Chr6 | 32,653,252 (-15, +15) | 32,653,252 (-15, +15) | ||
nssv14327079 | Remapped | Perfect | NC_000006.11:g.(32 621014_32621044)_( 32621014_32621044) ins859 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,621,029 (-15, +15) | 32,621,029 (-15, +15) |
nssv14327080 | Remapped | Perfect | NC_000006.11:g.(32 621014_32621044)_( 32621014_32621044) ins859 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,621,029 (-15, +15) | 32,621,029 (-15, +15) |
nssv14327081 | Remapped | Perfect | NC_000006.11:g.(32 621014_32621044)_( 32621014_32621044) ins859 | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 32,621,029 (-15, +15) | 32,621,029 (-15, +15) |