A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042709



Internal ID18785240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133429369..133551641hg38UCSC Ensembl
Innerchr10:135242873..135365145hg19UCSC Ensembl
Innerchr10:135092863..135215135hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38122273
hg19122273
hg18122273
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1001n100
Supporting Variantsnssv3520469, nssv3515699, nssv3517539
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)nsv1042709
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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