A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14316999



Internal ID22205429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241197244..241197551hg38UCSC Ensembl
chr1:241360544..241360851hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3521047
Supporting Variants
SamplesHG00732
Known GenesRGS7
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYA5 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14316999
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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