A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195069



Internal ID20762109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95211101..95241600hg38UCSC Ensembl
chr12:95604877..95635376hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3830500
hg1930500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458114
Supporting Variants
Samples
Known GenesFGD6, VEZT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195069
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00069


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