nsv3901095
- 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:3,308,684
- Description:GRCh38/hg38 1q41(chr1:216518607-219827290)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: 7783 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 7785 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 1973 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 |
|---|---|---|---|---|---|---|---|
| nsv3901095 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 216,518,607 | 219,827,290 |
| nsv3901095 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 216,691,949 | 220,000,632 |
| nsv3901095 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 214,758,572 | 218,067,255 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134470 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053953.4, VCV000060081.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134470 | Submitted genomic | NC_000001.11:g.(?_ 216518607)_(219827 290_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 216,518,607 | 219,827,290 |
| nssv15134470 | Submitted genomic | NC_000001.10:g.(?_ 216691949)_(220000 632_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 216,691,949 | 220,000,632 |
| nssv15134470 | Submitted genomic | NC_000001.9:g.(?_2 14758572)_(2180672 55_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 214,758,572 | 218,067,255 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134470 | GRCh37: NC_000001.10:g.(?_216691949)_(220000632_?)del, GRCh38: NC_000001.11:g.(?_216518607)_(219827290_?)del, NCBI36: NC_000001.9:g.(?_214758572)_(218067255_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053953.4, VCV000060081.1 | 1 |