nsv4230978
- 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:4,338
- 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: 31 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4230978 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 119,192,304 | 119,196,641 |
| nsv4230978 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000012.11 | Chr12 | 119,630,109 | 119,634,446 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15949489 | duplication | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15949489 | Remapped | Perfect | NC_000012.12:g.119 192304_119196641du p | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 119,192,304 | 119,196,641 |
| nssv15949489 | Submitted genomic | NC_000012.11:g.119 630109_119634446du p | GRCh37.p13 | NC_000012.11 | Chr12 | 119,630,109 | 119,634,446 |
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) |
|---|---|---|---|
| nssv15949489 | 4.6e-005 | 1 | 21694 |