A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496761



Internal ID20869964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4143196..4215553hg38UCSC Ensembl
chr17:4046490..4118848hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3872358
hg1972359
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178935
Samples
Known GenesANKFY1, CYB5D2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496761
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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