A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193339



Internal ID20760379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94686219..94882731hg38UCSC Ensembl
chr12:95079995..95276507hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38196513
hg19196513
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465379
Supporting Variants
Samples
Known GenesKRT19P2, MIR492
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193339
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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