A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469650



Internal ID247429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:77469807..77476650hg38UCSC Ensembl
chr5:76765632..76772475hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386844
hg196844
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968467
Samples
Known GenesWDR41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469650
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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