nsv7098869
- 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:15,041,447
- Description:GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957) 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: 23945 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 23784 SVs from 105 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098869 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 140,503,850 | 155,545,296 |
| nsv7098869 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 139,586,015 | 154,774,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792759 | copy number gain | Multiple | Multiple | LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; Syndromic X-linked intellectual disability Lubs type | Pathogenic | ClinVar | RCV003214133.1, VCV002497748.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792759 | Remapped | Good | NC_000023.11:g.(14 0503850_?)_(?_1555 45296)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 140,503,850 | 155,545,296 |
| nssv18792759 | Submitted genomic | NC_000023.10:g.(13 9586015_?)_(?_1547 74957)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 139,586,015 | 154,774,957 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792759 | GRCh37: NC_000023.10:g.(139586015_?)_(?_154774957)dup | copy number gain | maternal | LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL; MECP2 Duplication Syndrome; Syndromic X-linked intellectual disability Lubs type | Pathogenic | ClinVar | RCV003214133.1, VCV002497748.1 |