A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3564170



Internal ID22395947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39423334..39423334hg38UCSC Ensembl
chr5:39423436..39423436hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14319304, nssv14319308, nssv14319309, nssv14319305, nssv14319307, nssv14319310, nssv14319311, nssv14319306, nssv14319312
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDAB2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3564170
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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