A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6497486



Internal ID20870693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34547647..35364191hg38UCSC Ensembl
chr17:32874666..33691210hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38816545
hg19816545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183391
Samples
Known GenesC17orf102, CCT6B, FNDC8, LIG3, NLE1, RAD51D, RAD51L3-RFFL, RFFL, SLC35G3, SLFN11, SLFN5, TMEM132E, UNC45B, ZNF830
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6497486
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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