A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3175882



Internal ID22333607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:60604044..60604350hg38UCSC Ensembl
chr1:61069716..61070022hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv238n152
Supporting Variantsnssv14369076, nssv14369077
SamplesNA19239, NA19240
Known Genes
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)nsv3175882
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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