nsv3923992
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:46,065,007
- Description:GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 142762 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 142795 SVs from 144 studies. See in: genome view
Overlapping variant regions from other studies: 36978 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923992 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 49,978 | 46,114,984 |
| nsv3923992 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 50,093 | 46,115,086 |
| nsv3923992 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 103,093 | 46,150,843 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147291 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135453.5, VCV000146130.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147291 | Submitted genomic | NC_000005.10:g.(?_ 49978)_(46114984_? )dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 49,978 | 46,114,984 |
| nssv15147291 | Submitted genomic | NC_000005.9:g.(?_5 0093)_(46115086_?) dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 50,093 | 46,115,086 |
| nssv15147291 | Submitted genomic | NC_000005.8:g.(?_1 03093)_(46150843_? )dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 103,093 | 46,150,843 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147291 | GRCh37: NC_000005.9:g.(?_50093)_(46115086_?)dup, GRCh38: NC_000005.10:g.(?_49978)_(46114984_?)dup, NCBI36: NC_000005.8:g.(?_103093)_(46150843_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000135453.5, VCV000146130.2 | 3 |