A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582711



Internal ID16023434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113137939..113226926hg38UCSC Ensembl
Innerchr2:113895516..113984503hg19UCSC Ensembl
Innerchr2:113611987..113700974hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3888988
hg1988988
hg1888988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916096
Samples
Known GenesPAX8, PSD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582711
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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