A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365568



Internal ID22202315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103899617..103899941hg38UCSC Ensembl
chr12:104293395..104293719hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3519974
Supporting Variants
SamplesHG00732
Known GenesGNN
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)nssv14365568
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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