nsv7098217
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,131,195
- Description:
See descriptions for individual calls in download files
- ClinVar: RCV003109599.2
- ClinVar: RCV003113287.2
- ClinVar: VCV002424705.4
- ClinVar: VCV002425675.3
- MONDO: 0010306
- MedGen: C1845861
- MedGen: CN517202
- OMIM: 300304.0001
- OMIM: 300304.0002
- OMIM: 300304.0003
- OMIM: 300304.0005
- OMIM: 300304.0006
- OMIM: 300354
- OMIM: 300360
- Orphanet: 85289
- Orphanet: 85293
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4176 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 4169 SVs from 78 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098217 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 118,495,972 | 120,627,166 |
| nsv7098217 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 117,629,935 | 119,761,021 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18788646 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003109599.2, VCV002425675.3 |
| nssv18789643 | deletion | Multiple | Multiple | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC; MOVED TO 300354; See individual phenotypes in OMIM allelic variants; Syndromic X-linked mental retardation, Cabezas type; X linked intellectual disability, Vitale type; X-linked intellectual disability, Cabezas type | Pathogenic | ClinVar | RCV003113287.2, VCV002424705.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18788646 | Remapped | Good | NC_000023.11:g.(?_ 118495972)_(120627 166_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 118,495,972 | 120,627,166 |
| nssv18789643 | Remapped | Good | NC_000023.11:g.(?_ 118495972)_(120627 166_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 118,495,972 | 120,627,166 |
| nssv18788646 | Submitted genomic | NC_000023.10:g.(?_ 117629935)_(119761 021_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 117,629,935 | 119,761,021 | ||
| nssv18789643 | Submitted genomic | NC_000023.10:g.(?_ 117629935)_(119761 021_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 117,629,935 | 119,761,021 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18788646 | GRCh37: NC_000023.10:g.(?_117629935)_(119761021_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003109599.2, VCV002425675.3 |
| nssv18789643 | GRCh37: NC_000023.10:g.(?_117629935)_(119761021_?)del | deletion | germline | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC; MOVED TO 300354; See individual phenotypes in OMIM allelic variants; Syndromic X-linked mental retardation, Cabezas type; X linked intellectual disability, Vitale type; X-linked intellectual disability, Cabezas type | Pathogenic | ClinVar | RCV003113287.2, VCV002424705.4 |