A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14443392



Internal ID22227982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:52255708..52255708hg38UCSC Ensembl
chr15:52547905..52547905hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg383554
hg193554
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523987
Supporting Variants
SamplesHG00733
Known GenesMYO5C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14443392
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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