A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440348



Internal ID22231074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:101976000..101976000hg38UCSC Ensembl
chr10:103735757..103735757hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520421
Supporting Variants
SamplesHG00733
Known GenesC10orf76
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)nssv14440348
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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