nsv3924016
- 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:3,495,463
- Description:GRCh38/hg38 11p12-11.2(chr11:40688674-44184136)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: 9023 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 9023 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 2411 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924016 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 40,688,674 | 44,184,136 |
| nsv3924016 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 40,710,224 | 44,205,686 |
| nsv3924016 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 40,666,800 | 44,162,262 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136034 | copy number gain | Multiple | Multiple | See cases | Likely pathogenic | ClinVar | RCV000138110.4, VCV000149051.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136034 | Submitted genomic | NC_000011.10:g.(?_ 40688674)_(4418413 6_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 40,688,674 | 44,184,136 |
| nssv15136034 | Submitted genomic | NC_000011.9:g.(?_4 0710224)_(44205686 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 40,710,224 | 44,205,686 |
| nssv15136034 | Submitted genomic | NC_000011.8:g.(?_4 0666800)_(44162262 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 40,666,800 | 44,162,262 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136034 | GRCh37: NC_000011.9:g.(?_40710224)_(44205686_?)dup, GRCh38: NC_000011.10:g.(?_40688674)_(44184136_?)dup, NCBI36: NC_000011.8:g.(?_40666800)_(44162262_?)dup | copy number gain | de novo | See cases | Likely pathogenic | ClinVar | RCV000138110.4, VCV000149051.2 | 3 |