A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5459386



Internal ID237401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36480594..36485572hg38UCSC Ensembl
chr6:36448371..36453349hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg384979
hg194979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981340
Samples
Known GenesKCTD20
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5459386
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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