nsv3920623
- 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:1,401,435
- Description:GRCh38/hg38 17q22(chr17:56683505-58084939)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: 4004 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 4004 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1139 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920623 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 56,683,505 | 58,084,939 |
| nsv3920623 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 54,760,866 | 56,162,300 |
| nsv3920623 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 52,115,865 | 53,517,299 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132869 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135409.4, VCV000146083.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132869 | Submitted genomic | NC_000017.11:g.(?_ 56683505)_(5808493 9_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 56,683,505 | 58,084,939 |
| nssv15132869 | Submitted genomic | NC_000017.10:g.(?_ 54760866)_(5616230 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 54,760,866 | 56,162,300 |
| nssv15132869 | Submitted genomic | NC_000017.9:g.(?_5 2115865)_(53517299 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 52,115,865 | 53,517,299 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132869 | GRCh37: NC_000017.10:g.(?_54760866)_(56162300_?)del, GRCh38: NC_000017.11:g.(?_56683505)_(58084939_?)del, NCBI36: NC_000017.9:g.(?_52115865)_(53517299_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135409.4, VCV000146083.2 | 1 |