A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3533794



Internal ID22403091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51982166..51982166hg38UCSC Ensembl
chr6:51846964..51846964hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38431
hg19431
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14464289
SamplesHG00733
Known GenesPKHD1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3533794
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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