A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6355057



Internal ID21012610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53771327..54054031hg38UCSC Ensembl
chr2:53998464..54281168hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38282705
hg19282705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209908
Samples
Known GenesASB3, CHAC2, ERLEC1, GPR75, GPR75-ASB3, MIR3682, PSME4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6355057
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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