A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542636



Internal ID22411714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:157039646..157039646hg38UCSC Ensembl
chr6:157360780..157360780hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425896, nssv14465070
SamplesHG00733, HG00514
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)nsv3542636
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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