nsv4668731
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,586
- Description:nsv4620397 from DECIPHER Consensus CNVs. 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: 125 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4668731 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 61,132,973 | 61,141,558 |
| nsv4668731 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 61,425,172 | 61,433,757 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16184777 | deletion | Curated | Curated |
| nssv16200282 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16184777 | Remapped | Perfect | NC_000015.10:g.(?_ 61132973)_(6114155 8_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 61,132,973 | 61,141,558 |
| nssv16200282 | Remapped | Perfect | NC_000015.10:g.(?_ 61132973)_(6114155 8_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 61,132,973 | 61,141,558 |
| nssv16184777 | Submitted genomic | NC_000015.9:g.(?_6 1425172)_(61433757 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 61,425,172 | 61,433,757 | ||
| nssv16200282 | Submitted genomic | NC_000015.9:g.(?_6 1425172)_(61433757 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 61,425,172 | 61,433,757 |
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) |
|---|---|---|---|
| nssv16184777 | 0.067 | 57 | 845 |
| nssv16200282 | 0.012 | 10 | 845 |