A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504040



Internal ID20877299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43537515..43634172hg38UCSC Ensembl
chr17:41614883..41711540hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3896658
hg1996658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181674
Samples
Known GenesETV4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504040
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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