nsv3910618
- 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:4,602,273
- Description:GRCh38/hg38 8q22.3-23.1(chr8:101199826-105802098)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: 11450 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 11450 SVs from 111 studies. See in: genome view
Overlapping variant regions from other studies: 2891 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910618 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 101,199,826 | 105,802,098 |
| nsv3910618 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 102,212,054 | 106,814,326 |
| nsv3910618 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 102,281,230 | 106,883,502 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136236 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136812.4, VCV000147649.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136236 | Submitted genomic | NC_000008.11:g.(?_ 101199826)_(105802 098_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 101,199,826 | 105,802,098 |
| nssv15136236 | Submitted genomic | NC_000008.10:g.(?_ 102212054)_(106814 326_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 102,212,054 | 106,814,326 |
| nssv15136236 | Submitted genomic | NC_000008.9:g.(?_1 02281230)_(1068835 02_?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 102,281,230 | 106,883,502 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136236 | GRCh37: NC_000008.10:g.(?_102212054)_(106814326_?)del, GRCh38: NC_000008.11:g.(?_101199826)_(105802098_?)del, NCBI36: NC_000008.9:g.(?_102281230)_(106883502_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000136812.4, VCV000147649.2 | 1 |