A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514294



Internal ID290792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41837263..41841230hg38UCSC Ensembl
chr17:39993515..39997482hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383968
hg193968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713211
Samples
Known GenesKLHL10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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