A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042575



Internal ID18785106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133429369..133552598hg38UCSC Ensembl
Innerchr10:135242873..135366102hg19UCSC Ensembl
Innerchr10:135092863..135216092hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38123230
hg19123230
hg18123230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1001n100
Supporting Variantsnssv3706277, nssv3505848, nssv3516875, nssv3706274, nssv3706275, nssv3510373, nssv3706276, nssv3706278
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)nsv1042575
Frequency
Sample Size29084
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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