A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522988



Internal ID22392412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169029717..169030037hg38UCSC Ensembl
chr2:169886227..169886547hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4890n152
Supporting Variantsnssv14294834, nssv14294833, nssv14294835
SamplesHG00512, HG00513, HG00514
Known GenesABCB11
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUYB8 mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522988
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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