A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005486



Internal ID18748017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151793297..151830691hg38UCSC Ensembl
Innerchr3:151511085..151548479hg19UCSC Ensembl
Innerchr3:152993775..153031169hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3837395
hg1937395
hg1837395
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4920n100
Supporting Variantsnssv3606288, nssv3606285, nssv3741528, nssv3741527, nssv3741531, nssv3606295, nssv3741533, nssv3606292, nssv3606274, nssv3606298, nssv3606303, nssv3606273, nssv3606293, nssv3606279, nssv3606289, nssv3606287, nssv3741525, nssv3741532, nssv3741526, nssv3606281, nssv3606280, nssv3606275, nssv3606297, nssv3741530, nssv3606282, nssv3606300, nssv3606278, nssv3741529, nssv3606299, nssv3606302, nssv3606276, nssv3606294, nssv3606291, nssv3606290, nssv3741523, nssv3606283, nssv3606296, nssv3606284, nssv3606301, nssv3606286, nssv3741524, nssv3606277
Samples
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005486
Frequency
Sample Size29084
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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