A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296457



Internal ID22264378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181491249..181491559hg38UCSC Ensembl
chr2:182355976..182356286hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3178104
Supporting Variants
SamplesNA19238
Known GenesITGA4
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYG6 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296457
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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