nsv3918925
- 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:7,186,100
- Description:GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)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: 18136 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 18138 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 4990 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918925 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 79,882,162 | 87,068,261 |
| nsv3918925 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 81,641,918 | 88,828,018 |
| nsv3918925 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 81,631,898 | 88,817,998 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147101 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052539.8, VCV000033096.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147101 | Submitted genomic | NC_000010.11:g.(?_ 79882162)_(8706826 1_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 79,882,162 | 87,068,261 |
| nssv15147101 | Submitted genomic | NC_000010.10:g.(?_ 81641918)_(8882801 8_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 81,641,918 | 88,828,018 |
| nssv15147101 | Submitted genomic | NC_000010.9:g.(?_8 1631898)_(88817998 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 81,631,898 | 88,817,998 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147101 | GRCh37: NC_000010.10:g.(?_81641918)_(88828018_?)del, GRCh38: NC_000010.11:g.(?_79882162)_(87068261_?)del, NCBI36: NC_000010.9:g.(?_81631898)_(88817998_?)del | copy number loss | see ClinVar for details | See cases | Pathogenic | ClinVar | RCV000052539.8, VCV000033096.2 | 1 |