A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389075



Internal ID22287529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163593841..163594144hg38UCSC Ensembl
chr6:164014873..164015176hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183250
Supporting Variants
SamplesNA19240
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389075
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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