A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6532139



Internal ID20905500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25293143..25412007hg38UCSC Ensembl
chr20:25273779..25392643hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38118865
hg19118865
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202555
Samples
Known GenesABHD12, GINS1, PYGB
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6532139
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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