nsv4195249
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,188
- Publication(s):gnomAD_Structural_Variants
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: 44 SVs from 6 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 44 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4195249 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 2,872,347 | 2,873,534 |
| nsv4195249 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187585.1 | Chr11|NT_1 87585.1 | 104,520 | 105,707 |
| nsv4195249 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000011.9 | Chr11 | 2,893,577 | 2,894,764 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15798399 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15798399 | Remapped | Perfect | NT_187585.1:g.1045 20_105707del | GRCh38.p12 | Second Pass | NT_187585.1 | Chr11|NT_1 87585.1 | 104,520 | 105,707 |
| nssv15798399 | Remapped | Perfect | NC_000011.10:g.287 2347_2873534del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 2,872,347 | 2,873,534 |
| nssv15798399 | Submitted genomic | NC_000011.9:g.2893 577_2894764del | GRCh37.p13 | NC_000011.9 | Chr11 | 2,893,577 | 2,894,764 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv15798399 | 9.2e-005 | 2 | 21694 |