A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400546



Internal ID179927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:156222334..156222385hg38UCSC Ensembl
chr3:155940123..155940174hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942239
Samples
Known GenesKCNAB1, KCNAB1-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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