A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3525148



Internal ID22394524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123375924..123376313hg38UCSC Ensembl
chr3:123094771..123095160hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14309365, nssv14309361, nssv14309363, nssv14309360, nssv14309366, nssv14309359, nssv14309367, nssv14309362, nssv14309364
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesADCY5
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3525148
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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