A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6505023



Internal ID20878289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44679805..44682878hg38UCSC Ensembl
chr17:42757173..42760246hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg383074
hg193074
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18035857
Samples
Known GenesCCDC43
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6505023
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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