nsv4681475
- 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:3,223
- Description:NM_001365902.3(NFIX):c.818+561_956-804del AND Marshall-Smith syndrome
- Publication(s):Dernedde et al. 1998, 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: 89 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 89 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4681475 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 13,074,582 | 13,077,804 |
| nsv4681475 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 13,185,396 | 13,188,618 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212996 | deletion | Multiple | Multiple | MARSHALL-SMITH SYNDROME; MRSHSS; Marshall-Smith syndrome; Marshall-Smith syndrome | Pathogenic | ClinVar | RCV001072122.1, VCV000864839.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16212996 | Submitted genomic | NC_000019.10:g.130 74582_13077804del | GRCh38 (hg38) | NC_000019.10 | Chr19 | 13,074,582 | 13,077,804 |
| nssv16212996 | Submitted genomic | NC_000019.9:g.1318 5396_13188618del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 13,185,396 | 13,188,618 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212996 | GRCh37: NC_000019.9:g.13185396_13188618del, GRCh38: NC_000019.10:g.13074582_13077804del | deletion | germline | MARSHALL-SMITH SYNDROME; MRSHSS; Marshall-Smith syndrome; Marshall-Smith syndrome | Pathogenic | ClinVar | RCV001072122.1, VCV000864839.1 |