nsv3899041
- 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:612,174
- Description:GRCh38/hg38 1q31.2(chr1:192567876-193180049)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: 1611 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1611 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 398 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3899041 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 192,567,876 | 193,180,049 |
| nsv3899041 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 192,537,006 | 193,149,179 |
| nsv3899041 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 190,803,629 | 191,415,802 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121995 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053950.5, VCV000060078.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121995 | Submitted genomic | NC_000001.11:g.(?_ 192567876)_(193180 049_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 192,567,876 | 193,180,049 |
| nssv15121995 | Submitted genomic | NC_000001.10:g.(?_ 192537006)_(193149 179_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 192,537,006 | 193,149,179 |
| nssv15121995 | Submitted genomic | NC_000001.9:g.(?_1 90803629)_(1914158 02_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 190,803,629 | 191,415,802 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121995 | GRCh37: NC_000001.10:g.(?_192537006)_(193149179_?)del, GRCh38: NC_000001.11:g.(?_192567876)_(193180049_?)del, NCBI36: NC_000001.9:g.(?_190803629)_(191415802_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053950.5, VCV000060078.1 | 1 |