nsv4723515
- 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:nsv4540526 from gnomAD Structural Variants and nsv4684616 from Lee et. al 2020 and nsv5550424 from Byrska-Bishop et. al 2021. 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: 112 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4723515 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 71,441,333 | 71,441,333 |
| nsv4723515 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 71,733,672 | 71,733,672 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16220501 | insertion | Curated | Curated |
| nssv16252917 | insertion | Curated | Curated |
| nssv17964295 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16220501 | Remapped | Perfect | NC_000015.10:g.714 41333_71441334ins? | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 71,441,333 | 71,441,333 |
| nssv16252917 | Remapped | Perfect | NC_000015.10:g.714 41333_71441334ins? | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 71,441,333 | 71,441,333 |
| nssv17964295 | Remapped | Perfect | NC_000015.10:g.714 41333_71441334ins? | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 71,441,333 | 71,441,333 |
| nssv16220501 | Submitted genomic | NC_000015.9:g.7173 3672_71733673ins? | GRCh37 (hg19) | NC_000015.9 | Chr15 | 71,733,672 | 71,733,672 | ||
| nssv16252917 | Submitted genomic | NC_000015.9:g.7173 3672_71733673ins? | GRCh37 (hg19) | NC_000015.9 | Chr15 | 71,733,672 | 71,733,672 | ||
| nssv17964295 | Submitted genomic | NC_000015.9:g.7173 3672_71733673ins? | GRCh37 (hg19) | NC_000015.9 | Chr15 | 71,733,672 | 71,733,672 |
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) |
|---|---|---|---|
| nssv16220501 | 0.556 | 12057 | 21680 |
| nssv16252917 | 1 | 2570 | 2570 |
| nssv17964295 | 0.511 | 3208 | 6282 |