nsv4354951
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:139,008,663
- Description:Single allele AND Syndromic X-linked intellectual disability Lubs type
- Publication(s):Van Esch et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 193299 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 193059 SVs from 118 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4354951 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 15,305,088 | 154,313,750 |
| nsv4354951 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 15,323,210 | 153,542,100 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606129 | duplication | Multiple | Multiple | LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; Syndromic X-linked intellectual disability Lubs type | Pathogenic | ClinVar | RCV000768455.1, VCV000626291.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606129 | Remapped | Good | NC_000023.11:g.153 05088_154313750dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 15,305,088 | 154,313,750 |
| nssv15606129 | Submitted genomic | NC_000023.10:g.153 23210_153542100dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 15,323,210 | 153,542,100 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606129 | GRCh37: NC_000023.10:g.15323210_153542100dup | duplication | unknown | LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; Syndromic X-linked intellectual disability Lubs type | Pathogenic | ClinVar | RCV000768455.1, VCV000626291.1 |