nsv3898149
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:156,005,831
- Description:GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 234698 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 233831 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 38282 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3898149 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 20,297 | 156,026,127 |
| nsv3898149 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 70,297 | 155,255,792 |
| nsv3898149 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 10,297 | 154,908,986 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161533 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135321.6, VCV000145995.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161533 | Submitted genomic | NC_000023.11:g.(?_ 20297)_(156026127_ ?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 20,297 | 156,026,127 |
| nssv15161533 | Submitted genomic | NC_000023.10:g.(?_ 70297)_(155255792_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 70,297 | 155,255,792 |
| nssv15161533 | Submitted genomic | NC_000023.9:g.(?_1 0297)_(154908986_? )del | NCBI36 (hg18) | NC_000023.9 | ChrX | 10,297 | 154,908,986 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161533 | GRCh37: NC_000023.10:g.(?_70297)_(155255792_?)del, GRCh38: NC_000023.11:g.(?_20297)_(156026127_?)del, NCBI36: NC_000023.9:g.(?_10297)_(154908986_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135321.6, VCV000145995.3 | 1 |