A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583012



Internal ID16023735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:126657085..126662652hg38UCSC Ensembl
Innerchr2:127414661..127420228hg19UCSC Ensembl
Innerchr2:127131131..127136698hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg385568
hg195568
hg185568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv918049
Samples
Known GenesGYPC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583012
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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