nsv4628009
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:767
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: 195 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 195 SVs from 16 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4628009 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 45,433,463 | 45,434,229 |
| nsv4628009 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805502.1 | Chr18|NW_0 19805502.1 | 53,578 | 54,344 |
| nsv4628009 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 43,013,428 | 43,014,194 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16136884 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16136884 | Remapped | Perfect | NW_019805502.1:g.( ?_53578)_(54344_?) del | GRCh38.p12 | Second Pass | NW_019805502.1 | Chr18|NW_0 19805502.1 | 53,578 | 54,344 |
| nssv16136884 | Remapped | Perfect | NC_000018.10:g.(?_ 45433463)_(4543422 9_?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 45,433,463 | 45,434,229 |
| nssv16136884 | Submitted genomic | NC_000018.9:g.(?_4 3013428)_(43014194 _?)del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 43,013,428 | 43,014,194 |
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) |
|---|---|---|---|
| nssv16136884 | 0.1 | 4 | 40 |