A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042562



Internal ID18785093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:14938693..14973069hg38UCSC Ensembl
Innerchr12:15091627..15126003hg19UCSC Ensembl
Innerchr12:14982894..15017270hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3834377
hg1934377
hg1834377
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1394n100
Supporting Variantsnssv3511227
Samples
Known GenesARHGDIB, PDE6H
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042562
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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