A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14417007



Internal ID22153007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:43888044..43888350hg38UCSC Ensembl
chr11:43909594..43909900hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3189646
Supporting Variants
SamplesHG00514
Known GenesALKBH3
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)nssv14417007
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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