A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv875623



Internal ID6282634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:192009310..192060780hg19UCSC Ensembl
Outerchr2:192002538..192061869hg19UCSC Ensembl
Innerchr2:191717555..191769025hg18UCSC Ensembl
Outerchr2:191710783..191770114hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1500691
SamplesSP50084
Known GenesSTAT4
Method
Analysis
PlatformIllumina HumanHap 610 Quad + Illumina HumanHap 1MduoV3
Comments
ReferenceXu_et_al_2011
Pubmed ID21882294
Accession Number(s)nsv875623
Frequency
Sample Size6533
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer