nsv3904847
- 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:141,758
- Description:GRCh38/hg38 Xp11.4(chrX:38627546-38769303)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: 359 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 360 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 58 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3904847 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 38,627,546 | 38,769,303 |
| nsv3904847 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 38,486,799 | 38,628,556 |
| nsv3904847 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 38,371,743 | 38,513,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139884 | copy number gain | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000143367.5, VCV000155300.2 | 2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139884 | Submitted genomic | NC_000023.11:g.(?_ 38627546)_(3876930 3_?)dup | GRCh38 (hg38) | NC_000023.11 | ChrX | 38,627,546 | 38,769,303 |
| nssv15139884 | Submitted genomic | NC_000023.10:g.(?_ 38486799)_(3862855 6_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 38,486,799 | 38,628,556 |
| nssv15139884 | Submitted genomic | NC_000023.9:g.(?_3 8371743)_(38513500 _?)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 38,371,743 | 38,513,500 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139884 | GRCh37: NC_000023.10:g.(?_38486799)_(38628556_?)dup, GRCh38: NC_000023.11:g.(?_38627546)_(38769303_?)dup, NCBI36: NC_000023.9:g.(?_38371743)_(38513500_?)dup | copy number gain | see ClinVar for details | See cases | conflicting data from submitters | ClinVar | RCV000143367.5, VCV000155300.2 | 2 |