A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6522704



Internal ID20896065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76464994..76534435hg38UCSC Ensembl
chr17:74461076..74530517hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3869442
hg1969442
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185352
Samples
Known GenesAANAT, CYGB, PRCD, RHBDF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6522704
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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