nsv4135616
- 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:7,001
- 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: 180 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 4 studies. See in: genome view
Overlapping variant regions from other studies: 178 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4135616 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,605,683 | 76,612,683 |
| nsv4135616 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 92,518 | 99,518 |
| nsv4135616 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000007.13 | Chr7 | 76,235,000 | 76,242,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15981801 | duplication | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15981801 | Remapped | Perfect | NT_187561.1:g.9251 8_99518dup | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 92,518 | 99,518 |
| nssv15981801 | Remapped | Perfect | NC_000007.14:g.766 05683_76612683dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,605,683 | 76,612,683 |
| nssv15981801 | Submitted genomic | NC_000007.13:g.762 35000_76242000dup | GRCh37.p13 | NC_000007.13 | Chr7 | 76,235,000 | 76,242,000 |
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) |
|---|---|---|---|
| nssv15981801 | 0.014 | 267 | 19778 |