nsv4230041
- 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:600
- 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: 40 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4230041 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 127,326,744 | 127,327,343 |
| nsv4230041 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000012.11 | Chr12 | 127,811,289 | 127,811,888 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15815613 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15815613 | Remapped | Perfect | NC_000012.12:g.127 326744_127327343de l | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 127,326,744 | 127,327,343 |
| nssv15815613 | Submitted genomic | NC_000012.11:g.127 811289_127811888de l | GRCh37.p13 | NC_000012.11 | Chr12 | 127,811,289 | 127,811,888 |
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) |
|---|---|---|---|
| nssv15815613 | 4.6e-005 | 1 | 21694 |