nsv3916301
- 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:5,135,726
- Description:GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 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: 12008 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 11953 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 2810 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916301 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 71,928,796 | 77,064,521 |
| nsv3916301 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 71,639,842 | 76,751,808 |
| nsv3916301 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 71,317,490 | 76,453,216 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132222 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052708.4, VCV000058916.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132222 | Submitted genomic | NC_000011.10:g.(?_ 71928796)_(7706452 1_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 71,928,796 | 77,064,521 |
| nssv15132222 | Submitted genomic | NC_000011.9:g.(?_7 1639842)_(76751808 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 71,639,842 | 76,751,808 |
| nssv15132222 | Submitted genomic | NC_000011.8:g.(?_7 1317490)_(76453216 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 71,317,490 | 76,453,216 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132222 | GRCh37: NC_000011.9:g.(?_71639842)_(76751808_?)del, GRCh38: NC_000011.10:g.(?_71928796)_(77064521_?)del, NCBI36: NC_000011.8:g.(?_71317490)_(76453216_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052708.4, VCV000058916.1 | 1 |