nsv4684248
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,290,818
- Description:GRCh37/hg19 17p12(chr17:14079630-15370444)x3 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: 3841 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 3841 SVs from 109 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684248 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 14,176,313 | 15,467,130 |
| nsv4684248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 14,079,630 | 15,370,444 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215327 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001195077.1, VCV000929831.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215327 | Remapped | Perfect | NC_000017.11:g.(?_ 14176313)_(1546713 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 14,176,313 | 15,467,130 |
| nssv16215327 | Submitted genomic | NC_000017.10:g.(?_ 14079630)_(1537044 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 14,079,630 | 15,370,444 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215327 | GRCh37: NC_000017.10:g.(?_14079630)_(15370444_?)dup | copy number gain | maternal | See cases | Pathogenic | ClinVar | RCV001195077.1, VCV000929831.1 | 3 |