A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048253



Internal ID18790784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:129847356..131188858hg38UCSC Ensembl
Innerchr10:131645620..132987121hg19UCSC Ensembl
Innerchr10:131535610..132877111hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg381341503
hg191341502
hg181341502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3510714
Samples
Known GenesCTAGE7P, EBF3, GLRX3, LINC00959, MIR378C, TCERG1L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048253
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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