nsv4665226
- 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:6,348
- Description:nsv4597481 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: 197 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 49 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 197 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4665226 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 79,966,840 | 79,973,187 |
| nsv4665226 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 109,277 | 115,578 |
| nsv4665226 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 80,887,994 | 80,894,341 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16195322 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16195322 | Remapped | Perfect | NC_000004.12:g.(?_ 79966840)_(7997318 7_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 79,966,840 | 79,973,187 |
| nssv16195322 | Remapped | Good | NW_009646199.1:g.( ?_109277)_(115578_ ?)del | GRCh38.p12 | Second Pass | NW_009646199.1 | Chr5|NW_00 9646199.1 | 109,277 | 115,578 |
| nssv16195322 | Submitted genomic | NC_000004.11:g.(?_ 80887994)_(8089434 1_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 80,887,994 | 80,894,341 |
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) |
|---|---|---|---|
| nssv16195322 | 0.011 | 9 | 845 |