A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv819764



Internal ID6083031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56145169..56145354hg19UCSC Ensembl
Innerchr2:55998673..55998858hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1419070
SamplesAK1
Known GenesEFEMP1
Method
Analysis
PlatformIllumina CNV610 Beadchip + Illumina GA and GAII Sequencing + Illumina CNV370 Beadchip + Agilent Custom 24M CGH Array
Comments
ReferenceKim_et_al_2009
Pubmed ID19587683
Accession Number(s)nsv819764
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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