A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv876754



Internal ID6283765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46889187..46957298hg19UCSC Ensembl
Outerchr3:46884552..46967040hg19UCSC Ensembl
Innerchr3:46864191..46932302hg18UCSC Ensembl
Outerchr3:46859556..46942044hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1548583
SamplesMS17878
Known GenesCCDC12, MYL3, PTH1R
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv876754
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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