A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496551



Internal ID20869754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38907869..39140425hg38UCSC Ensembl
chr17:37064122..37296678hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38232557
hg19232557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179806
Samples
Known GenesFBXO47, LASP1, LINC00672, LOC100131347, LRRC37A11P, MIR6779, PLXDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496551
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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