A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564232



Internal ID22432964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78358354..78358354hg38UCSC Ensembl
chr5:77654178..77654178hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321888
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564232
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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