A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500654



Internal ID20873882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5016382..5027396hg38UCSC Ensembl
chr17:4919677..4930691hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3811015
hg1911015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193990
Samples
Known GenesKIF1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500654
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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