nsv3917224
- 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:1,212,381
- Description:GRCh38/hg38 17q22(chr17:56958745-58171125)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: 3579 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3579 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1071 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917224 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 56,958,745 | 58,171,125 |
| nsv3917224 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 55,036,106 | 56,248,486 |
| nsv3917224 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 52,391,105 | 53,603,485 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134416 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053434.4, VCV000059591.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134416 | Submitted genomic | NC_000017.11:g.(?_ 56958745)_(5817112 5_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 56,958,745 | 58,171,125 |
| nssv15134416 | Submitted genomic | NC_000017.10:g.(?_ 55036106)_(5624848 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 55,036,106 | 56,248,486 |
| nssv15134416 | Submitted genomic | NC_000017.9:g.(?_5 2391105)_(53603485 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 52,391,105 | 53,603,485 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134416 | GRCh37: NC_000017.10:g.(?_55036106)_(56248486_?)del, GRCh38: NC_000017.11:g.(?_56958745)_(58171125_?)del, NCBI36: NC_000017.9:g.(?_52391105)_(53603485_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053434.4, VCV000059591.1 | 1 |