nsv3565916
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a Alu 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: 136 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3565916 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 84,730,808 (-15, +15) | 84,730,808 (-15, +15) | ||
nsv3565916 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 87,345,723 (-15, +15) | 87,345,723 (-15, +15) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14347817 | alu insertion | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
nssv14347818 | alu insertion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
nssv14347819 | alu insertion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
nssv14347820 | alu insertion | SAMN00001695 | Sequencing | Sequence alignment | Heterozygous | 15,732 |
nssv14347821 | alu insertion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14347817 | Submitted genomic | NC_000009.12:g.(84 730793_84730823)_( 84730793_84730823) ins279 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 84,730,808 (-15, +15) | 84,730,808 (-15, +15) | ||
nssv14347818 | Submitted genomic | NC_000009.12:g.(84 730793_84730823)_( 84730793_84730823) ins279 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 84,730,808 (-15, +15) | 84,730,808 (-15, +15) | ||
nssv14347819 | Submitted genomic | NC_000009.12:g.(84 730793_84730823)_( 84730793_84730823) ins279 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 84,730,808 (-15, +15) | 84,730,808 (-15, +15) | ||
nssv14347820 | Submitted genomic | NC_000009.12:g.(84 730793_84730823)_( 84730793_84730823) ins279 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 84,730,808 (-15, +15) | 84,730,808 (-15, +15) | ||
nssv14347821 | Submitted genomic | NC_000009.12:g.(84 730793_84730823)_( 84730793_84730823) ins279 | GRCh38 (hg38) | NC_000009.12 | Chr9 | 84,730,808 (-15, +15) | 84,730,808 (-15, +15) | ||
nssv14347817 | Remapped | Perfect | NC_000009.11:g.(87 345708_87345738)_( 87345708_87345738) ins279 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 87,345,723 (-15, +15) | 87,345,723 (-15, +15) |
nssv14347818 | Remapped | Perfect | NC_000009.11:g.(87 345708_87345738)_( 87345708_87345738) ins279 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 87,345,723 (-15, +15) | 87,345,723 (-15, +15) |
nssv14347819 | Remapped | Perfect | NC_000009.11:g.(87 345708_87345738)_( 87345708_87345738) ins279 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 87,345,723 (-15, +15) | 87,345,723 (-15, +15) |
nssv14347820 | Remapped | Perfect | NC_000009.11:g.(87 345708_87345738)_( 87345708_87345738) ins279 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 87,345,723 (-15, +15) | 87,345,723 (-15, +15) |
nssv14347821 | Remapped | Perfect | NC_000009.11:g.(87 345708_87345738)_( 87345708_87345738) ins279 | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 87,345,723 (-15, +15) | 87,345,723 (-15, +15) |