nsv7098218
- 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:1,052,455
- Description:NC_000023.10:g.(?_118708675)_(119761021_?)dup AND Syndromic X-linked intellectual disability 14
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2176 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 2172 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098218 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 119,574,712 | 120,627,166 |
| nsv7098218 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 118,708,675 | 119,761,021 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787997 | duplication | Multiple | Multiple | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14; Mental retardation, syndromic 14, X-linked; See individual phenotypes in OMIM allelic variants; X-linked intellectual disability with marfanoid habitus | Uncertain significance | ClinVar | RCV003123017.2, VCV002427183.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787997 | Remapped | Good | NC_000023.11:g.(?_ 119574712)_(120627 166_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 119,574,712 | 120,627,166 |
| nssv18787997 | Submitted genomic | NC_000023.10:g.(?_ 118708675)_(119761 021_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 118,708,675 | 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 |
|---|---|---|---|---|---|---|---|
| nssv18787997 | GRCh37: NC_000023.10:g.(?_118708675)_(119761021_?)dup | duplication | germline | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14; Mental retardation, syndromic 14, X-linked; See individual phenotypes in OMIM allelic variants; X-linked intellectual disability with marfanoid habitus | Uncertain significance | ClinVar | RCV003123017.2, VCV002427183.4 |