A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14389257



Internal ID22291508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76050728..76050728hg38UCSC Ensembl
chr17:74046809..74046809hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3524226
Supporting Variants
SamplesNA19240
Known GenesSRP68
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14389257
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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