nsv3921868
- 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:5,036,601
- Description:GRCh38/hg38 8q22.1(chr8:92755532-97792132)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: 12836 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 12836 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 3085 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921868 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 92,755,532 | 97,792,132 |
| nsv3921868 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 93,767,760 | 98,804,360 |
| nsv3921868 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 93,836,936 | 98,873,536 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131800 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000054278.4, VCV000060387.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131800 | Submitted genomic | NC_000008.11:g.(?_ 92755532)_(9779213 2_?)del | GRCh38 (hg38) | NC_000008.11 | Chr8 | 92,755,532 | 97,792,132 |
| nssv15131800 | Submitted genomic | NC_000008.10:g.(?_ 93767760)_(9880436 0_?)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 93,767,760 | 98,804,360 |
| nssv15131800 | Submitted genomic | NC_000008.9:g.(?_9 3836936)_(98873536 _?)del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 93,836,936 | 98,873,536 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131800 | GRCh37: NC_000008.10:g.(?_93767760)_(98804360_?)del, GRCh38: NC_000008.11:g.(?_92755532)_(97792132_?)del, NCBI36: NC_000008.9:g.(?_93836936)_(98873536_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000054278.4, VCV000060387.1 | 1 |