nsv4660296
- 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:62
- Description:nsv4618023 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: 180 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 31 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4660296 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 47,761,521 | 47,761,582 |
| nsv4660296 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 47,801,119 | 47,801,180 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16187350 | deletion | Curated | Curated |
| nssv16202855 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16187350 | Remapped | Perfect | NC_000007.14:g.(?_ 47761521)_(4776158 2_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 47,761,521 | 47,761,582 |
| nssv16202855 | Remapped | Perfect | NC_000007.14:g.(?_ 47761521)_(4776158 2_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 47,761,521 | 47,761,582 |
| nssv16187350 | Submitted genomic | NC_000007.13:g.(?_ 47801119)_(4780118 0_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 47,801,119 | 47,801,180 | ||
| nssv16202855 | Submitted genomic | NC_000007.13:g.(?_ 47801119)_(4780118 0_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 47,801,119 | 47,801,180 |
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) |
|---|---|---|---|
| nssv16187350 | 0.067 | 57 | 845 |
| nssv16202855 | 0.095 | 80 | 845 |