A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv589714



Internal ID16377123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:12756064..12815994hg38UCSC Ensembl
Innerchr3:12797563..12857493hg19UCSC Ensembl
Innerchr3:12772563..12832493hg18UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3859931
hg1959931
hg1859931
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv959127
Samples
Known GenesCAND2, TMEM40
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv589714
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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