A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14355946



Internal ID22195928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126417903..126418217hg38UCSC Ensembl
chr10:128106472..128106786hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3523073
Supporting Variants
SamplesHG00731
Known GenesLINC00601
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)nssv14355946
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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