A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6555546



Internal ID20928632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54181697..55084353hg38UCSC Ensembl
chr20:52798236..53700892hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38902657
hg19902657
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203251
Samples
Known GenesDOK5, PFDN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6555546
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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