A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402907



Internal ID182272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:156189657..156189657hg38UCSC Ensembl
chr3:155907446..155907446hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942236
Samples
Known GenesKCNAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402907
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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