nsv6290435
- 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:2
- Description:NM_023110.3(FGFR1):c.1285-527_2455dup AND spinal cord mass
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 87 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6290435 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 38,413,641 | 38,413,642 |
| nsv6290435 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 38,271,159 | 38,271,160 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17956493 | duplication | Multiple | Multiple | See cases | other | ClinVar | RCV001822981.4, VCV001338761.4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17956493 | Submitted genomic | NC_000008.11:g.384 13641_38413642dup | GRCh38 (hg38) | NC_000008.11 | Chr8 | 38,413,641 | 38,413,642 |
| nssv17956493 | Submitted genomic | NC_000008.10:g.382 71159_38271160dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 38,271,159 | 38,271,160 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17956493 | GRCh37: NC_000008.10:g.38271159_38271160dup, GRCh38: NC_000008.11:g.38413641_38413642dup | duplication | somatic | See cases | other | ClinVar | RCV001822981.4, VCV001338761.4 |