nsv4456207
- 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:435,668
- Description:GRCh37/hg19 5q34(chr5:162636748-163072415)x1 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: 1405 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 1405 SVs from 81 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4456207 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 163,209,742 | 163,645,409 |
nsv4456207 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 162,636,748 | 163,072,415 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15772359 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847466.2, VCV000686758.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15772359 | Remapped | Perfect | NC_000005.10:g.(?_ 163209742)_(163645 409_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 163,209,742 | 163,645,409 |
nssv15772359 | Submitted genomic | NC_000005.9:g.(?_1 62636748)_(1630724 15_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 162,636,748 | 163,072,415 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15772359 | GRCh37: NC_000005.9:g.(?_162636748)_(163072415_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000847466.2, VCV000686758.2 | 1 |