A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512047



Internal ID20885377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29395911..29398449hg38UCSC Ensembl
chr17:27722929..27725467hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382539
hg192539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18034695
Samples
Known GenesTAOK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512047
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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