A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196216



Internal ID20763256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6539198..6543713hg38UCSC Ensembl
chr12:6648364..6652879hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384516
hg194516
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460080
Supporting Variants
Samples
Known GenesIFFO1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196216
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00234


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