A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522889



Internal ID22392313
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14290940, nssv14290939
SamplesHG00731, HG00513
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)nsv3522889
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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