A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012027



Internal ID75689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72875265..72881700hg38UCSC Ensembl
chr8:73787500..73793935hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386436
hg196436
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141673
Supporting Variants
Samples
Known GenesKCNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012027
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.230691


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