nsv4769313
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:5,930
- Description:NM_001365902.3(NFIX):c.819-484_1079-700del AND Marshall-Smith syndrome
- Publication(s):Adam et al. 2005, Schanze et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 88 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 88 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4769313 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 13,075,028 | 13,080,957 |
| nsv4769313 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 13,185,842 | 13,191,771 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16297109 | deletion | Multiple | Multiple | MARSHALL-SMITH SYNDROME; MRSHSS; Marshall-Smith syndrome; Marshall-Smith syndrome | Pathogenic | ClinVar | RCV001072121.1, VCV000864838.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16297109 | Submitted genomic | NC_000019.10:g.130 75028_13080957del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 13,075,028 | 13,080,957 |
| nssv16297109 | Submitted genomic | NC_000019.9:g.1318 5842_13191771del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 13,185,842 | 13,191,771 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16297109 | GRCh37: NC_000019.9:g.13185842_13191771del, GRCh38: NC_000019.10:g.13075028_13080957del | deletion | germline | MARSHALL-SMITH SYNDROME; MRSHSS; Marshall-Smith syndrome; Marshall-Smith syndrome | Pathogenic | ClinVar | RCV001072121.1, VCV000864838.1 |