A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3540994



Internal ID22410113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157147208..157147208hg38UCSC Ensembl
chr6:157468342..157468342hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465460
SamplesHG00733
Known GenesARID1B
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)nsv3540994
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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