A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6339574



Internal ID20997127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53710399..53742131hg38UCSC Ensembl
chr2:53937536..53969268hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3831733
hg1931733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209907
Samples
Known GenesASB3, GPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6339574
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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