nsv3892895
- 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:37,095,811
- Description:GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)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: 99632 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 99540 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 26575 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3892895 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 52,266 | 37,148,076 |
| nsv3892895 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 93,949 | 37,189,567 |
| nsv3892895 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 68,949 | 37,164,571 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146217 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051097.6, VCV000057397.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146217 | Submitted genomic | NC_000003.12:g.(?_ 52266)_(37148076_? )dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 52,266 | 37,148,076 |
| nssv15146217 | Submitted genomic | NC_000003.11:g.(?_ 93949)_(37189567_? )dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 93,949 | 37,189,567 |
| nssv15146217 | Submitted genomic | NC_000003.10:g.(?_ 68949)_(37164571_? )dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 68,949 | 37,164,571 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146217 | GRCh37: NC_000003.11:g.(?_93949)_(37189567_?)dup, GRCh38: NC_000003.12:g.(?_52266)_(37148076_?)dup, NCBI36: NC_000003.10:g.(?_68949)_(37164571_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051097.6, VCV000057397.1 | 3 |