A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18225170



Internal ID20792210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:131798565..132239873hg38UCSC Ensembl
chr8:132810812..133252120hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38441309
hg19441309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6433697
Supporting Variants
Samples
Known GenesEFR3A, HHLA1, KCNQ3, OC90
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18225170
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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