A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14430981



Internal ID22173346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57218710..57219033hg38UCSC Ensembl
chr16:57252622..57252945hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188028
Supporting Variants
SamplesHG00514
Known GenesRSPRY1
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)nssv14430981
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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