A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462201



Internal ID21119754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52520433..52849892hg38UCSC Ensembl
chr12:52914217..53243676hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38329460
hg19329460
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188293
Samples
Known GenesKRT1, KRT2, KRT3, KRT4, KRT5, KRT71, KRT72, KRT73, KRT74, KRT76, KRT77, KRT78, KRT79
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462201
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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