nsv3922335
- 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:15,978,751
- Description:GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)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: 43122 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 43126 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 11474 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922335 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 58,436,466 | 74,415,216 |
| nsv3922335 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 60,196,226 | 76,174,974 |
| nsv3922335 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 59,866,232 | 75,844,980 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146419 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052511.5, VCV000058726.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146419 | Submitted genomic | NC_000010.11:g.(?_ 58436466)_(7441521 6_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 58,436,466 | 74,415,216 |
| nssv15146419 | Submitted genomic | NC_000010.10:g.(?_ 60196226)_(7617497 4_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 60,196,226 | 76,174,974 |
| nssv15146419 | Submitted genomic | NC_000010.9:g.(?_5 9866232)_(75844980 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 59,866,232 | 75,844,980 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146419 | GRCh37: NC_000010.10:g.(?_60196226)_(76174974_?)del, GRCh38: NC_000010.11:g.(?_58436466)_(74415216_?)del, NCBI36: NC_000010.9:g.(?_59866232)_(75844980_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052511.5, VCV000058726.1 | 1 |