nsv3918356
- 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:220,697
- Description:GRCh38/hg38 3p21.31(chr3:48950685-49171381)x4 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: 621 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 621 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 92 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918356 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 48,950,685 | 49,171,381 |
| nsv3918356 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 48,988,118 | 49,208,814 |
| nsv3918356 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 48,963,122 | 49,183,818 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138871 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143510.5, VCV000155443.2 | 4 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138871 | Submitted genomic | NC_000003.12:g.(?_ 48950685)_(4917138 1_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 48,950,685 | 49,171,381 |
| nssv15138871 | Submitted genomic | NC_000003.11:g.(?_ 48988118)_(4920881 4_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 48,988,118 | 49,208,814 |
| nssv15138871 | Submitted genomic | NC_000003.10:g.(?_ 48963122)_(4918381 8_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 48,963,122 | 49,183,818 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138871 | GRCh37: NC_000003.11:g.(?_48988118)_(49208814_?)dup, GRCh38: NC_000003.12:g.(?_48950685)_(49171381_?)dup, NCBI36: NC_000003.10:g.(?_48963122)_(49183818_?)dup | copy number gain | de novo | See cases | Uncertain significance | ClinVar | RCV000143510.5, VCV000155443.2 | 4 |