nsv4455279
- 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:3,054,770
- Description:GRCh37/hg19 7p14.1(chr7:40198215-43252984)x3 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: 6671 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 6672 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4455279 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 40,158,616 | 43,213,385 |
| nsv4455279 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 40,198,215 | 43,252,984 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15776323 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000849081.2, VCV000688390.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15776323 | Remapped | Perfect | NC_000007.14:g.(?_ 40158616)_(4321338 5_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 40,158,616 | 43,213,385 |
| nssv15776323 | Submitted genomic | NC_000007.13:g.(?_ 40198215)_(4325298 4_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 40,198,215 | 43,252,984 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15776323 | GRCh37: NC_000007.13:g.(?_40198215)_(43252984_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000849081.2, VCV000688390.2 | 3 |