A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523376



Internal ID22392803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6227190..6227190hg38UCSC Ensembl
chr12:6336356..6336356hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14388599
SamplesNA19240
Known GenesCD9
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)nsv3523376
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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