nsv4685664
- 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:9,187,970
- Description:Single allele AND Mowat-Wilson syndrome
- Publication(s):Adam et al. 2007, Zollino 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: 21362 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 21363 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685664 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 136,882,067 | 146,070,036 |
| nsv4685664 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 137,639,637 | 146,827,604 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216738 | deletion | Multiple | Multiple | MOWAT-WILSON SYNDROME; MOWS; Mowat-Wilson Syndrome; Mowat-Wilson syndrome; Mowat-Wilson syndrome | Pathogenic | ClinVar | RCV001250753.1, VCV000974580.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216738 | Remapped | Perfect | NC_000002.12:g.(?_ 136882067)_(146070 036_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 136,882,067 | 146,070,036 |
| nssv16216738 | Submitted genomic | NC_000002.11:g.(?_ 137639637)_(146827 604_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 137,639,637 | 146,827,604 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216738 | GRCh37: NC_000002.11:g.(?_137639637)_(146827604_?)del | deletion | germline | MOWAT-WILSON SYNDROME; MOWS; Mowat-Wilson Syndrome; Mowat-Wilson syndrome; Mowat-Wilson syndrome | Pathogenic | ClinVar | RCV001250753.1, VCV000974580.1 |