nsv6310679
- 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:432,853
- Description:NC_000001.10:g.(?_150044213)_(150477474_?)dup AND Congenital neutropenia-myelofibrosis-nephromegaly syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1387 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 1438 SVs from 66 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6310679 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 150,072,146 | 150,504,998 |
nsv6310679 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 150,044,213 | 150,477,474 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17970657 | duplication | Multiple | Multiple | Congenital neutropenia-myelofibrosis-nephromegaly syndrome; Congenital neutropenia-myelofibrosis-nephromegaly syndrome; NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5 | Uncertain significance | ClinVar | RCV001920742.2, VCV001411622.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17970657 | Remapped | Good | NC_000001.11:g.(?_ 150072146)_(150504 998_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 150,072,146 | 150,504,998 |
nssv17970657 | Submitted genomic | NC_000001.10:g.(?_ 150044213)_(150477 474_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 150,044,213 | 150,477,474 |
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 |
---|---|---|---|---|---|---|---|
nssv17970657 | GRCh37: NC_000001.10:g.(?_150044213)_(150477474_?)dup | duplication | germline | Congenital neutropenia-myelofibrosis-nephromegaly syndrome; Congenital neutropenia-myelofibrosis-nephromegaly syndrome; NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE; SCN5 | Uncertain significance | ClinVar | RCV001920742.2, VCV001411622.2 |