A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190253



Internal ID20757293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14938268..14978348hg38UCSC Ensembl
chr12:15091202..15131282hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3840081
hg1940081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472895
Supporting Variants
Samples
Known GenesARHGDIB, ERP27, PDE6H
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190253
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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