A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3534912



Internal ID22404177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36948674..36948674hg38UCSC Ensembl
chr6:36916450..36916450hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14400374
SamplesNA19240
Known GenesPI16
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)nsv3534912
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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