A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559432



Internal ID16346841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:78085837..78109986hg38UCSC Ensembl
Innerchr12:78479617..78503766hg19UCSC Ensembl
Innerchr12:77003748..77027897hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3824150
hg1924150
hg1824150
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2721n54
Supporting Variantsnssv1175881
Samples1780862176_A
Known GenesNAV3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559432
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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