nsv4657042
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,001
- Description:nsv4134324 from gnomAD Structural Variants. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 613 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 610 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4657042 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,630,683 | 76,635,683 |
| nsv4657042 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 117,518 | 122,518 |
| nsv4657042 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,260,000 | 76,265,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16156115 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16156115 | Remapped | Perfect | NT_187561.1:g.1175 18_122518del | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 117,518 | 122,518 |
| nssv16156115 | Remapped | Perfect | NC_000007.14:g.766 30683_76635683del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,630,683 | 76,635,683 |
| nssv16156115 | Submitted genomic | NC_000007.13:g.762 60000_76265000del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,260,000 | 76,265,000 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16156115 | 0.133 | 2891 | 21694 |