A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002142



Internal ID19091359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75366712..75496659hg38UCSC Ensembl
Innerchr3:75415863..75545810hg19UCSC Ensembl
Innerchr3:75498553..75628500hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38129948
hg19129948
hg18129948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4774n100
Supporting Variantsnssv3594179
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002142
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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