A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047718



Internal ID18790249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133429369..133547593hg38UCSC Ensembl
Innerchr10:135242873..135361097hg19UCSC Ensembl
Innerchr10:135092863..135211087hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38118225
hg19118225
hg18118225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1001n100
Supporting Variantsnssv3521546, nssv3510580, nssv3516207, nssv3506480, nssv3706272, nssv3508996, nssv3510687, nssv3520122, nssv3706273, nssv3515339, nssv3504617
Samples
Known GenesCYP2E1, SCART1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047718
Frequency
Sample Size29084
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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