A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204663



Internal ID22353477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67224201..67224750hg38UCSC Ensembl
chr5:66520029..66520578hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38550
hg19550
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14323154
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204663
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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