nsv3904162
- 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:156,020,895
- Description:GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)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: 234861 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 234007 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 38290 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 |
|---|---|---|---|---|---|---|---|
| nsv3904162 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 10,001 | 156,030,895 |
| nsv3904162 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 60,001 | 155,260,560 |
| nsv3904162 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 1 | 154,913,754 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161776 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136005.5, VCV000146764.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161776 | Submitted genomic | NC_000023.11:g.(?_ 10001)_(156030895_ ?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 10,001 | 156,030,895 |
| nssv15161776 | Submitted genomic | NC_000023.10:g.(?_ 60001)_(155260560_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 60,001 | 155,260,560 |
| nssv15161776 | Submitted genomic | NC_000023.9:g.(?_1 )_(154913754_?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 1 | 154,913,754 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161776 | GRCh37: NC_000023.10:g.(?_60001)_(155260560_?)del, GRCh38: NC_000023.11:g.(?_10001)_(156030895_?)del, NCBI36: NC_000023.9:g.(?_1)_(154913754_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000136005.5, VCV000146764.2 | 1 |