nsv3901751
- 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:2,575,655
- Description:GRCh38/hg38 1q32.2(chr1:207583527-210159181)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: 5554 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 5556 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 1460 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901751 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 207,583,527 | 210,159,181 |
| nsv3901751 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 207,756,872 | 210,332,526 |
| nsv3901751 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 205,823,495 | 208,399,149 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136930 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139025.4, VCV000150129.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136930 | Submitted genomic | NC_000001.11:g.(?_ 207583527)_(210159 181_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 207,583,527 | 210,159,181 |
| nssv15136930 | Submitted genomic | NC_000001.10:g.(?_ 207756872)_(210332 526_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 207,756,872 | 210,332,526 |
| nssv15136930 | Submitted genomic | NC_000001.9:g.(?_2 05823495)_(2083991 49_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 205,823,495 | 208,399,149 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136930 | GRCh37: NC_000001.10:g.(?_207756872)_(210332526_?)del, GRCh38: NC_000001.11:g.(?_207583527)_(210159181_?)del, NCBI36: NC_000001.9:g.(?_205823495)_(208399149_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139025.4, VCV000150129.2 | 1 |