A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540328



Internal ID22409473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:64268852..64268852hg38UCSC Ensembl
chr6:64978745..64978745hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3810302
hg1910302
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425950
SamplesHG00514
Known GenesEYS
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3540328
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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