nsv3899968
- 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:3,333,962
- Description:GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)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: 18909 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 18897 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 4167 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3899968 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 821,713 | 4,155,674 |
| nsv3899968 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 757,093 | 4,215,734 |
| nsv3899968 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 746,956 | 4,115,594 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147022 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051996.7, VCV000058245.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147022 | Submitted genomic | NC_000001.11:g.(?_ 821713)_(4155674_? )del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 821,713 | 4,155,674 |
| nssv15147022 | Submitted genomic | NC_000001.10:g.(?_ 757093)_(4215734_? )del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 757,093 | 4,215,734 |
| nssv15147022 | Submitted genomic | NC_000001.9:g.(?_7 46956)_(4115594_?) del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 746,956 | 4,115,594 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147022 | GRCh37: NC_000001.10:g.(?_757093)_(4215734_?)del, GRCh38: NC_000001.11:g.(?_821713)_(4155674_?)del, NCBI36: NC_000001.9:g.(?_746956)_(4115594_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051996.7, VCV000058245.2 | 1 |