A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000278



Internal ID19089495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68509618..68674295hg38UCSC Ensembl
Innerchr4:69375336..69540013hg19UCSC Ensembl
Innerchr4:69057931..69222608hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38164678
hg19164678
hg18164678
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5264n100
Supporting Variantsnssv3628435, nssv3628449, nssv3628444, nssv3628437, nssv3628453, nssv3628451, nssv3628442, nssv3744894, nssv3628450, nssv3628455, nssv3628452, nssv3628440, nssv3628438, nssv3744895, nssv3628439, nssv3744896, nssv3628445, nssv3628447, nssv3628448, nssv3628441, nssv3628443, nssv3628446, nssv3628436, nssv3628454, nssv3628434
Samples
Known GenesUGT2B15, UGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000278
Frequency
Sample Size11257
Observed Gain15
Observed Loss10
Observed Complex0
Frequencyn/a


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