A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531390



Internal ID22400750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82934934..82934934hg38UCSC Ensembl
chr6:83644653..83644653hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14461247, nssv14426048
SamplesHG00733, HG00514
Known GenesUBE3D
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)nsv3531390
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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