A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540564



Internal ID22409696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89339641..89339641hg38UCSC Ensembl
chr6:90049360..90049360hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426066, nssv14461033
SamplesHG00733, HG00514
Known GenesUBE2J1
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)nsv3540564
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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