nsv4523040
- 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:251
- 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: 61 SVs from 10 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: 61 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4523040 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 29,183,981 | 29,184,231 |
| nsv4523040 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571036.1 | Chr5|NW_00 3571036.1 | 156,364 | 156,614 |
| nsv4523040 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000005.9 | Chr5 | 29,184,088 | 29,184,338 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15898292 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15898292 | Remapped | Perfect | NW_003571036.1:g.1 56364_156614del | GRCh38.p12 | Second Pass | NW_003571036.1 | Chr5|NW_00 3571036.1 | 156,364 | 156,614 |
| nssv15898292 | Remapped | Perfect | NC_000005.10:g.291 83981_29184231del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 29,183,981 | 29,184,231 |
| nssv15898292 | Submitted genomic | NC_000005.9:g.2918 4088_29184338del | GRCh37.p13 | NC_000005.9 | Chr5 | 29,184,088 | 29,184,338 |
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) |
|---|---|---|---|
| nssv15898292 | 0.003 | 72 | 21692 |