nsv3906611
- 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:6,880,793
- Description:GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)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: 10786 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 10092 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 1999 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3906611 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 142,602,008 | 149,482,800 |
| nsv3906611 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 141,689,794 | 147,944,759 |
| nsv3906611 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 141,517,460 | 148,372,236 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122324 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141518.4, VCV000153019.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122324 | Submitted genomic | NC_000023.11:g.(?_ 142602008)_(149482 800_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 142,602,008 | 149,482,800 |
| nssv15122324 | Submitted genomic | NC_000023.10:g.(?_ 141689794)_(147944 759_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 141,689,794 | 147,944,759 |
| nssv15122324 | Submitted genomic | NC_000023.9:g.(?_1 41517460)_(1483722 36_?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 141,517,460 | 148,372,236 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122324 | GRCh37: NC_000023.10:g.(?_141689794)_(147944759_?)del, GRCh38: NC_000023.11:g.(?_142602008)_(149482800_?)del, NCBI36: NC_000023.9:g.(?_141517460)_(148372236_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000141518.4, VCV000153019.2 | 1 |