nsv3898337
- 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:52,798,504
- Description:GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)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: 91917 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 91103 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 13118 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3898337 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 10,679 | 52,809,182 |
| nsv3898337 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 60,679 | 52,838,206 |
| nsv3898337 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 679 | 52,854,931 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146212 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051026.6, VCV000057339.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146212 | Submitted genomic | NC_000023.11:g.(?_ 10679)_(52809182_? )del | GRCh38 (hg38) | NC_000023.11 | ChrX | 10,679 | 52,809,182 |
| nssv15146212 | Submitted genomic | NC_000023.10:g.(?_ 60679)_(52838206_? )del | GRCh37 (hg19) | NC_000023.10 | ChrX | 60,679 | 52,838,206 |
| nssv15146212 | Submitted genomic | NC_000023.9:g.(?_6 79)_(52854931_?)de l | NCBI36 (hg18) | NC_000023.9 | ChrX | 679 | 52,854,931 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146212 | GRCh37: NC_000023.10:g.(?_60679)_(52838206_?)del, GRCh38: NC_000023.11:g.(?_10679)_(52809182_?)del, NCBI36: NC_000023.9:g.(?_679)_(52854931_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051026.6, VCV000057339.1 | 1 |