A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3561713



Internal ID22430481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66879967..66879967hg38UCSC Ensembl
chr1:67345650..67345650hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14372268
SamplesNA19239
Known GenesWDR78
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3561713
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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