nsv4350658
- 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:2,454,875
- Description:GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266) AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7936 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 7935 SVs from 105 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4350658 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 72,724,297 | 75,179,171 |
| nsv4350658 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 70,720,436 | 73,175,266 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605937 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767767.1, VCV000625759.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605937 | Remapped | Good | NC_000017.11:g.(?_ 72724297)_(7517917 1_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 72,724,297 | 75,179,171 |
| nssv15605937 | Submitted genomic | NC_000017.10:g.(?_ 70720436)_(7317526 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 70,720,436 | 73,175,266 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605937 | GRCh37: NC_000017.10:g.(?_70720436)_(73175266_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767767.1, VCV000625759.1 |