A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14290940



Internal ID22183816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119016148..119016466hg38UCSC Ensembl
chr1:119558771..119559089hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV alu deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522889
Supporting Variants
SamplesHG00731
Known Genes
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)nssv14290940
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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