nsv3900409
- 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:184,400
- Description:
GRCh38/hg38 Xp22.31(chrX:7297294-7481693)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: 604 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 604 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 62 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3900409 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 7,297,294 | 7,481,693 |
| nsv3900409 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 7,215,335 | 7,399,734 |
| nsv3900409 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 7,225,335 | 7,409,734 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139908 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143518.5, VCV000155451.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139908 | Submitted genomic | NC_000023.11:g.(?_ 7297294)_(7481693_ ?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 7,297,294 | 7,481,693 |
| nssv15139908 | Submitted genomic | NC_000023.10:g.(?_ 7215335)_(7399734_ ?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 7,215,335 | 7,399,734 |
| nssv15139908 | Submitted genomic | NC_000023.9:g.(?_7 225335)_(7409734_? )dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 7,225,335 | 7,409,734 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139908 | GRCh37: NC_000023.10:g.(?_7215335)_(7399734_?)dup, GRCh38: NC_000023.11:g.(?_7297294)_(7481693_?)dup, NCBI36: NC_000023.9:g.(?_7225335)_(7409734_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000143518.5, VCV000155451.2 | 2 |