nsv3904398
- 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:306,495
- Description:GRCh38/hg38 Xp22.2(chrX:10759076-11065570)x2 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: 452 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 36 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3904398 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 10,759,076 | 11,065,570 |
| nsv3904398 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 10,727,116 | 11,083,690 |
| nsv3904398 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 10,687,116 | 10,993,611 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120631 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052363.5, VCV000058590.1 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120631 | Submitted genomic | NC_000023.11:g.(?_ 10759076)_(1106557 0_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 10,759,076 | 11,065,570 |
| nssv15120631 | Submitted genomic | NC_000023.10:g.(?_ 10727116)_(1108369 0_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 10,727,116 | 11,083,690 |
| nssv15120631 | Submitted genomic | NC_000023.9:g.(?_1 0687116)_(10993611 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 10,687,116 | 10,993,611 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120631 | GRCh37: NC_000023.10:g.(?_10727116)_(11083690_?)dup, GRCh38: NC_000023.11:g.(?_10759076)_(11065570_?)dup, NCBI36: NC_000023.9:g.(?_10687116)_(10993611_?)dup | copy number gain | maternal | See cases | Pathogenic | ClinVar | RCV000052363.5, VCV000058590.1 | 2 |