A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14401152



Internal ID22296209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:79354634..79354634hg38UCSC Ensembl
chr6:80064351..80064351hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3827663
hg1927663
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3532016
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14401152
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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