nsv3901058
- 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:10,471,156
- Description:GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)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: 24113 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 24114 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 6360 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901058 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 60,473,800 | 70,944,955 |
| nsv3901058 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 60,939,472 | 71,410,638 |
| nsv3901058 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 60,712,060 | 71,183,226 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146185 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050703.4, VCV000057090.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146185 | Submitted genomic | NC_000001.11:g.(?_ 60473800)_(7094495 5_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 60,473,800 | 70,944,955 |
| nssv15146185 | Submitted genomic | NC_000001.10:g.(?_ 60939472)_(7141063 8_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 60,939,472 | 71,410,638 |
| nssv15146185 | Submitted genomic | NC_000001.9:g.(?_6 0712060)_(71183226 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 60,712,060 | 71,183,226 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146185 | GRCh37: NC_000001.10:g.(?_60939472)_(71410638_?)del, GRCh38: NC_000001.11:g.(?_60473800)_(70944955_?)del, NCBI36: NC_000001.9:g.(?_60712060)_(71183226_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050703.4, VCV000057090.1 | 1 |