A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590657



Internal ID16378066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75379524..75500011hg38UCSC Ensembl
Innerchr3:75428675..75549162hg19UCSC Ensembl
Innerchr3:75511365..75631852hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38120488
hg19120488
hg18120488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8381n54
Supporting Variantsnssv965648, nssv965647, nssv965649
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590657
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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