A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460785



Internal ID238757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96939908..96940041hg38UCSC Ensembl
chr6:97387784..97387917hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988521
Samples
Known GenesKLHL32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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