A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5621318



Internal ID21569623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178733567..178733567hg38UCSC Ensembl
chr3:178451355..178451355hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38604
hg19604
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17124235
SamplesNA18939
Known GenesKCNMB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5621318
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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