A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3287755



Internal ID22386162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112689643..112689694hg38UCSC Ensembl
chr6:113010845..113010896hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436666
SamplesHG00514
Known Genes
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)nsv3287755
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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