A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14467527



Internal ID22219713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112241136..112241136hg38UCSC Ensembl
chr6:112562337..112562337hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540629
Supporting Variants
SamplesHG00733
Known GenesLAMA4
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)nssv14467527
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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