nsv4723298
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:esv3886310 from 1000 Genomes Consortium Phase 3 Integrated SV and nsv4320825 from gnomAD Structural Variants and nsv4685254 from Lee et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 204 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 204 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4723298 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 21,708,297 | 21,708,297 |
| nsv4723298 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 23,080,617 | 23,080,617 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16218035 | insertion | Curated | Curated |
| nssv16224031 | insertion | Curated | Curated |
| nssv16253100 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16218035 | Remapped | Perfect | NC_000021.9:g.2170 8297_21708298ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,708,297 | 21,708,297 |
| nssv16224031 | Remapped | Perfect | NC_000021.9:g.2170 8297_21708298ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,708,297 | 21,708,297 |
| nssv16253100 | Remapped | Perfect | NC_000021.9:g.2170 8297_21708298ins? | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 21,708,297 | 21,708,297 |
| nssv16218035 | Submitted genomic | NC_000021.8:g.2308 0617_23080618ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,080,617 | 23,080,617 | ||
| nssv16224031 | Submitted genomic | NC_000021.8:g.2308 0617_23080618ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,080,617 | 23,080,617 | ||
| nssv16253100 | Submitted genomic | NC_000021.8:g.2308 0617_23080618ins? | GRCh37 (hg19) | NC_000021.8 | Chr21 | 23,080,617 | 23,080,617 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16218035 | 0.507 | 10981 | 21654 |
| nssv16224031 | 0.286 | 1433 | 5008 |
| nssv16253100 | 0.749 | 2334 | 3116 |