nsv4620110
- Organism: Homo sapiens
- Study:nstd183 (DECIPHER Consensus CNVs)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:137,060
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: 766 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 697 SVs from 57 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4620110 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 135,752,674 | 135,889,733 |
| nsv4620110 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 134,921,105 | 134,971,887 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16153912 | deletion | Curated | Curated |
| nssv16153913 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16153912 | Remapped | Pass | NC_000023.11:g.(?_ 135752674)_(135889 733_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,752,674 | 135,889,733 |
| nssv16153913 | Remapped | Pass | NC_000023.11:g.(?_ 135752674)_(135889 733_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 135,752,674 | 135,889,733 |
| nssv16153912 | Submitted genomic | NC_000023.10:g.(?_ 134921105)_(134971 887_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,921,105 | 134,971,887 | ||
| nssv16153913 | Submitted genomic | NC_000023.10:g.(?_ 134921105)_(134971 887_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 134,921,105 | 134,971,887 |
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) |
|---|---|---|---|
| nssv16153912 | 0.05 | 2 | 40 |
| nssv16153913 | 0.2 | 8 | 40 |