A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6508508



Internal ID20881810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21400310..21687760hg38UCSC Ensembl
chr17:21303622..21566608hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38287451
hg19262987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3034n223
Supporting Variantsnssv18178366
Samples
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6508508
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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