nsv4684271
- 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:1,077,466
- Description:GRCh37/hg19 5q34(chr5:161880996-162958461)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: 2967 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 2967 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4684271 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 162,453,990 | 163,531,455 |
| nsv4684271 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 161,880,996 | 162,958,461 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16215235 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV001194529.1, VCV000929325.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16215235 | Remapped | Perfect | NC_000005.10:g.(?_ 162453990)_(163531 455_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 162,453,990 | 163,531,455 |
| nssv16215235 | Submitted genomic | NC_000005.9:g.(?_1 61880996)_(1629584 61_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 161,880,996 | 162,958,461 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16215235 | GRCh37: NC_000005.9:g.(?_161880996)_(162958461_?)dup | copy number gain | unknown | See cases | Uncertain significance | ClinVar | RCV001194529.1, VCV000929325.1 | 3 |