A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590678



Internal ID16378087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75400984..75571578hg38UCSC Ensembl
Innerchr3:75450135..75620729hg19UCSC Ensembl
Innerchr3:75532825..75703419hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38170595
hg19170595
hg18170595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8382n54
Supporting Variantsnssv965699, nssv965700
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590678
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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