A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496974



Internal ID20870177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28654864..28664328hg38UCSC Ensembl
chr17:26981882..26991346hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389465
hg199465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187166
Samples
Known GenesSDF2, SUPT6H
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496974
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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