nsv3892887
- 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:7,273,225
- Description:GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1 AND Split hand-foot malformation 1
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 17184 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 17176 SVs from 127 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3892887 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 92,816,138 | 100,089,362 |
| nsv3892887 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 92,445,452 | 99,686,985 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15143221 | copy number loss | Multiple | Multiple | Isolated split hand-split foot malformation; SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; Split-hand/foot malformation 1 | Pathogenic | ClinVar | RCV000656540.1, VCV000545583.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15143221 | Remapped | Good | NC_000007.14:g.928 16138_100089362del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 92,816,138 | 100,089,362 |
| nssv15143221 | Submitted genomic | NC_000007.13:g.924 45452_99686985del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 92,445,452 | 99,686,985 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15143221 | GRCh37: NC_000007.13:g.92445452_99686985del | copy number loss | unknown | Isolated split hand-split foot malformation; SPLIT-HAND/FOOT MALFORMATION 1; SHFM1; Split-hand/foot malformation 1 | Pathogenic | ClinVar | RCV000656540.1, VCV000545583.1 | 1 |