A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496709



Internal ID20869912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31855098..31925850hg38UCSC Ensembl
chr17:30182117..30252869hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3870753
hg1970753
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18184464
Samples
Known GenesCOPRS, UTP6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496709
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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