nsv3896883
- 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:28,164
- Description:GRCh38/hg38 Xp21.1(chrX:31870708-31898871)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: 295 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 295 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 107 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 |
|---|---|---|---|---|---|---|---|
| nsv3896883 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 31,870,708 | 31,898,871 |
| nsv3896883 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,888,825 | 31,916,988 |
| nsv3896883 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,798,746 | 31,826,909 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137208 | copy number loss | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000137627.4, VCV000148554.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137208 | Submitted genomic | NC_000023.11:g.(?_ 31870708)_(3189887 1_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 31,870,708 | 31,898,871 |
| nssv15137208 | Submitted genomic | NC_000023.10:g.(?_ 31888825)_(3191698 8_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,888,825 | 31,916,988 |
| nssv15137208 | Submitted genomic | NC_000023.9:g.(?_3 1798746)_(31826909 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,798,746 | 31,826,909 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137208 | GRCh37: NC_000023.10:g.(?_31888825)_(31916988_?)del, GRCh38: NC_000023.11:g.(?_31870708)_(31898871_?)del, NCBI36: NC_000023.9:g.(?_31798746)_(31826909_?)del | copy number loss | not provided | See cases | conflicting data from submitters | ClinVar | RCV000137627.4, VCV000148554.2 | 1 |