nsv4719206
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:nsv4276554 from gnomAD Structural Variants and nsv4684847 from Lee et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 91 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4719206 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 43,524,288 | 43,524,288 |
| nsv4719206 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 43,565,780 | 43,565,780 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16228892 | insertion | Curated | Curated |
| nssv16253242 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16228892 | Remapped | Perfect | NC_000003.12:g.435 24288_43524289ins? | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 43,524,288 | 43,524,288 |
| nssv16253242 | Remapped | Perfect | NC_000003.12:g.435 24288_43524289ins? | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 43,524,288 | 43,524,288 |
| nssv16228892 | Submitted genomic | NC_000003.11:g.435 65780_43565781ins? | GRCh37 (hg19) | NC_000003.11 | Chr3 | 43,565,780 | 43,565,780 | ||
| nssv16253242 | Submitted genomic | NC_000003.11:g.435 65780_43565781ins? | GRCh37 (hg19) | NC_000003.11 | Chr3 | 43,565,780 | 43,565,780 |
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) |
|---|---|---|---|
| nssv16228892 | 0.931 | 20198 | 21694 |
| nssv16253242 | 0.738 | 2489 | 3374 |