A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14436621



Internal ID22179772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:96404922..96405253hg38UCSC Ensembl
chr6:96852798..96853129hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232173
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14436621
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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