A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063971



Internal ID18806502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:80606381..80629195hg38UCSC Ensembl
Innerchr16:80640278..80663092hg19UCSC Ensembl
Innerchr16:79197779..79220593hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3822815
hg1922815
hg1822815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3043n100
Supporting Variantsnssv3559787
Samples
Known GenesCDYL2, MIR548H4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063971
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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