nsv3923353
- 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:5,622,592
- Description:GRCh38/hg38 3p24.3-24.2(chr3:19915382-25537973)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: 14501 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 14501 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 3935 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923353 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 19,915,382 | 25,537,973 |
| nsv3923353 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 19,956,874 | 25,579,464 |
| nsv3923353 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 19,931,878 | 25,554,468 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119859 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051721.4, VCV000057979.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119859 | Submitted genomic | NC_000003.12:g.(?_ 19915382)_(2553797 3_?)dup | GRCh38 (hg38) | NC_000003.12 | Chr3 | 19,915,382 | 25,537,973 |
| nssv15119859 | Submitted genomic | NC_000003.11:g.(?_ 19956874)_(2557946 4_?)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 19,956,874 | 25,579,464 |
| nssv15119859 | Submitted genomic | NC_000003.10:g.(?_ 19931878)_(2555446 8_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 19,931,878 | 25,554,468 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119859 | GRCh37: NC_000003.11:g.(?_19956874)_(25579464_?)dup, GRCh38: NC_000003.12:g.(?_19915382)_(25537973_?)dup, NCBI36: NC_000003.10:g.(?_19931878)_(25554468_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051721.4, VCV000057979.1 | 3 |