nsv3895893
- 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:28,020
- Description:GRCh37/hg19 17q25.1(chr17:73886097-73914116)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: 216 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 36 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3895893 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 75,890,016 | 75,918,035 |
| nsv3895893 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 73,886,097 | 73,914,116 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15142699 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000447829.3, VCV000395477.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15142699 | Remapped | Perfect | NC_000017.11:g.(?_ 75890016)_(7591803 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 75,890,016 | 75,918,035 |
| nssv15142699 | Submitted genomic | NC_000017.10:g.(?_ 73886097)_(7391411 6_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 73,886,097 | 73,914,116 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15142699 | GRCh37: NC_000017.10:g.(?_73886097)_(73914116_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000447829.3, VCV000395477.3 | 1 |