nsv4632273
- 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:12,707
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: 629 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 603 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4632273 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 155,560,708 | 155,573,414 |
| nsv4632273 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 154,790,369 | 154,803,075 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16154036 | deletion | Curated | Curated |
| nssv16154037 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16154036 | Remapped | Perfect | NC_000023.11:g.(?_ 155560708)_(155573 414_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,560,708 | 155,573,414 |
| nssv16154037 | Remapped | Perfect | NC_000023.11:g.(?_ 155560708)_(155573 414_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 155,560,708 | 155,573,414 |
| nssv16154036 | Submitted genomic | NC_000023.10:g.(?_ 154790369)_(154803 075_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,790,369 | 154,803,075 | ||
| nssv16154037 | Submitted genomic | NC_000023.10:g.(?_ 154790369)_(154803 075_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 154,790,369 | 154,803,075 |
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) |
|---|---|---|---|
| nssv16154036 | 0.425 | 17 | 40 |
| nssv16154037 | 0.4 | 16 | 40 |