nsv3923673
- 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:44,934
- Description:
GRCh38/hg38 5p15.33(chr5:71798-116731)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: 939 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 939 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 223 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923673 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 71,798 | 116,731 |
| nsv3923673 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 71,913 | 116,846 |
| nsv3923673 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 124,913 | 169,846 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133824 | copy number gain | Multiple | Multiple | See cases | Benign/Likely benign | ClinVar | RCV000136056.5, VCV000146817.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133824 | Submitted genomic | NC_000005.10:g.(?_ 71798)_(116731_?)d up | GRCh38 (hg38) | NC_000005.10 | Chr5 | 71,798 | 116,731 |
| nssv15133824 | Submitted genomic | NC_000005.9:g.(?_7 1913)_(116846_?)du p | GRCh37 (hg19) | NC_000005.9 | Chr5 | 71,913 | 116,846 |
| nssv15133824 | Submitted genomic | NC_000005.8:g.(?_1 24913)_(169846_?)d up | NCBI36 (hg18) | NC_000005.8 | Chr5 | 124,913 | 169,846 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133824 | GRCh37: NC_000005.9:g.(?_71913)_(116846_?)dup, GRCh38: NC_000005.10:g.(?_71798)_(116731_?)dup, NCBI36: NC_000005.8:g.(?_124913)_(169846_?)dup | copy number gain | not provided | See cases | Benign/Likely benign | ClinVar | RCV000136056.5, VCV000146817.2 | 3 |