A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202329



Internal ID22351511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72141601..72152000hg38UCSC Ensembl
chr2:72368730..72379129hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3810400
hg1910400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4625n152
Supporting Variantsnssv14290710, nssv14290714, nssv14290706, nssv14290708, nssv14290712, nssv14290713, nssv14290707, nssv14290709, nssv14290711
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCYP26B1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202329
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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