nsv3913203
- 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:830,370
- Description:GRCh38/hg38 4q22.3(chr4:94616498-95446867)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: 2383 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2383 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 682 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 |
|---|---|---|---|---|---|---|---|
| nsv3913203 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 94,616,498 | 95,446,867 |
| nsv3913203 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 95,537,649 | 96,368,018 |
| nsv3913203 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 95,756,672 | 96,587,041 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135464 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138316.4, VCV000149266.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135464 | Submitted genomic | NC_000004.12:g.(?_ 94616498)_(9544686 7_?)dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 94,616,498 | 95,446,867 |
| nssv15135464 | Submitted genomic | NC_000004.11:g.(?_ 95537649)_(9636801 8_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 95,537,649 | 96,368,018 |
| nssv15135464 | Submitted genomic | NC_000004.10:g.(?_ 95756672)_(9658704 1_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 95,756,672 | 96,587,041 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135464 | GRCh37: NC_000004.11:g.(?_95537649)_(96368018_?)dup, GRCh38: NC_000004.12:g.(?_94616498)_(95446867_?)dup, NCBI36: NC_000004.10:g.(?_95756672)_(96587041_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000138316.4, VCV000149266.2 | 3 |