A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472427



Internal ID21129980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14753160..14774529hg38UCSC Ensembl
chr12:14906094..14927463hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3821370
hg1921370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18188539
Samples
Known GenesH2AFJ, HIST4H4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472427
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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