A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3178104



Internal ID22334808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181491249..181491559hg38UCSC Ensembl
chr2:182355976..182356286hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4915n152
Supporting Variantsnssv14296459, nssv14296457, nssv14296458, nssv14296456, nssv14296451, nssv14296452, nssv14296455, nssv14296453, nssv14296454
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesITGA4
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)nsv3178104
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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