nsv4718801
- 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:nsv4537725 from gnomAD Structural Variants and nsv4685028 from Lee et. al 2020 and nsv5541444 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: 105 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 105 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4718801 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 83,932,721 | 83,932,721 |
| nsv4718801 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 84,159,845 | 84,159,845 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16221614 | insertion | Curated | Curated |
| nssv16253174 | insertion | Curated | Curated |
| nssv17675465 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16221614 | Remapped | Perfect | NC_000002.12:g.839 32721_83932722ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 83,932,721 | 83,932,721 |
| nssv16253174 | Remapped | Perfect | NC_000002.12:g.839 32721_83932722ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 83,932,721 | 83,932,721 |
| nssv17675465 | Remapped | Perfect | NC_000002.12:g.839 32721_83932722ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 83,932,721 | 83,932,721 |
| nssv16221614 | Submitted genomic | NC_000002.11:g.841 59845_84159846ins? | GRCh37 (hg19) | NC_000002.11 | Chr2 | 84,159,845 | 84,159,845 | ||
| nssv16253174 | Submitted genomic | NC_000002.11:g.841 59845_84159846ins? | GRCh37 (hg19) | NC_000002.11 | Chr2 | 84,159,845 | 84,159,845 | ||
| nssv17675465 | Submitted genomic | NC_000002.11:g.841 59845_84159846ins? | GRCh37 (hg19) | NC_000002.11 | Chr2 | 84,159,845 | 84,159,845 |
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) |
|---|---|---|---|
| nssv16221614 | 0.223 | 4817 | 21646 |
| nssv16253174 | 0.677 | 2912 | 4304 |
| nssv17675465 | 0.542 | 3418 | 6302 |