A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv873999



Internal ID6281010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47934826..48013099hg19UCSC Ensembl
Outerchr2:47916074..48019485hg19UCSC Ensembl
Innerchr2:47788330..47866603hg18UCSC Ensembl
Outerchr2:47769578..47872989hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1542201
SamplesMS15707
Known GenesMSH6
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv873999
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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