A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18191513



Internal ID20758553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52843221..52843756hg38UCSC Ensembl
chr12:53237005..53237540hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474531
Supporting Variants
Samples
Known GenesKRT78
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18191513
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00047


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