A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962292



Internal ID22737227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42447094..42447094hg38UCSC Ensembl
chr2:42674234..42674234hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393744
Samples
Known GenesKCNG3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962292
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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