nsv997104
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:
- Submitted on:GRCh37 (hg19)
- Variant Calls:0
- Validation:Not tested
- Clinical Assertions: No
- Region Size:203,314
- Description:KAL1;This region was evaluated in the context of an affected MALE. Please review disease-specific literature for information regarding phenotype of this disorder in FEMALES.
- Publication(s):Riggs et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 627 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 627 SVs from 49 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv997104 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 8,528,874 | 8,732,187 |
| nsv997104 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 8,496,915 | 8,700,228 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv3442542 | copy number loss | Curated | Curated | HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 | Pathogenic | ClinGen Dosage Sensitivity Map | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3442542 | Remapped | Perfect | NC_000023.11:g.(?_ 8528874)_(8732187_ ?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 8,528,874 | 8,732,187 |
| nssv3442542 | Submitted genomic | NC_000023.10:g.(?_ 8496915)_(8700228_ ?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 8,496,915 | 8,700,228 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv3442542 | GRCh37: NC_000023.10:g.(?_8496915)_(8700228_?)del | copy number loss | HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 | Pathogenic | ClinGen Dosage Sensitivity Map | 0 |