A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14459399



Internal ID22211950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:21851411..21851538hg38UCSC Ensembl
chr6:21851642..21851769hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3272743
Supporting Variants
SamplesHG00733
Known GenesCASC15
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14459399
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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