A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590683



Internal ID16378092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75403949..75515720hg38UCSC Ensembl
Innerchr3:75453100..75564871hg19UCSC Ensembl
Innerchr3:75535790..75647561hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38111772
hg19111772
hg18111772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8384n54
Supporting Variantsnssv965737, nssv965740, nssv965741, nssv965738, nssv965742, nssv965739
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590683
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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