nsv3924008
- 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:71,977,071
- Description:GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)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: 211335 SVs from 150 studies. See in: genome view
Overlapping variant regions from other studies: 210630 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 55074 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924008 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 118,065,569 | 190,042,639 |
| nsv3924008 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 118,986,724 | 190,828,225 |
| nsv3924008 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 119,206,172 | 191,200,788 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132412 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051785.6, VCV000058042.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132412 | Submitted genomic | NC_000004.12:g.(?_ 118065569)_(190042 639_?)dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 118,065,569 | 190,042,639 |
| nssv15132412 | Submitted genomic | NC_000004.11:g.(?_ 118986724)_(190828 225_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 118,986,724 | 190,828,225 |
| nssv15132412 | Submitted genomic | NC_000004.10:g.(?_ 119206172)_(191200 788_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 119,206,172 | 191,200,788 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132412 | GRCh37: NC_000004.11:g.(?_118986724)_(190828225_?)dup, GRCh38: NC_000004.12:g.(?_118065569)_(190042639_?)dup, NCBI36: NC_000004.10:g.(?_119206172)_(191200788_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051785.6, VCV000058042.2 | 3 |