nsv4684299
- 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:1,860,229
- Description:GRCh37/hg19 17q12(chr17:34360168-36248859)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: 5294 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 6827 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 2506 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4684299 | Submitted genomic | GRCh38 (hg38) | ALT_REF_LOCI_1 | NT_187614.1 | Chr17|NT_1 87614.1 | 267,696 | 2,127,924 |
| nsv4684299 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 34,360,168 | 36,248,859 |
| nsv4684299 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 31,384,281 | 33,322,972 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137372 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140228.5, VCV000151517.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137372 | Submitted genomic | NT_187614.1:g.(?_2 67696)_(2127924_?) del | GRCh38 (hg38) | NT_187614.1 | Chr17|NT_1 87614.1 | 267,696 | 2,127,924 |
| nssv15137372 | Submitted genomic | NC_000017.10:g.(?_ 34360168)_(3624885 9_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 34,360,168 | 36,248,859 |
| nssv15137372 | Submitted genomic | NC_000017.9:g.(?_3 1384281)_(33322972 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 31,384,281 | 33,322,972 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137372 | GRCh37: NC_000017.10:g.(?_34360168)_(36248859_?)del, GRCh38: NT_187614.1:g.(?_267696)_(2127924_?)del, NCBI36: NC_000017.9:g.(?_31384281)_(33322972_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000140228.5, VCV000151517.3 | 1 |