A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182737



Internal ID20749777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122196269..122209594hg38UCSC Ensembl
chr12:122680816..122694141hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3813326
hg1913326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492523
Supporting Variants
Samples
Known GenesB3GNT4, DIABLO, LRRC43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182737
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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