A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582386



Internal ID16023109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88035188..89208087hg38UCSC Ensembl
Innerchr2:88334707..89507572hg19UCSC Ensembl
Innerchr2:88115822..89288687hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381172900
hg191172866
hg181172866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv913843
Samples
Known GenesANKRD36BP2, EIF2AK3, FABP1, FOXI3, KRCC1, MIR4436A, MIR4780, RPIA, SMYD1, TEX37, THNSL2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582386
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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