A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6501382



Internal ID20874615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38796029..38807243hg38UCSC Ensembl
chr17:36952282..36963496hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3811215
hg1911215
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187668
Samples
Known GenesCWC25, PIP4K2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6501382
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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