A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14395854



Internal ID22292932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101362526..101363180hg38UCSC Ensembl
chr12:101756304..101756958hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173349
Supporting Variants
SamplesNA19240
Known GenesUTP20
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a AluS mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14395854
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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