A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047264



Internal ID18789795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30975671..31018366hg38UCSC Ensembl
Innerchr12:31128606..31171300hg19UCSC Ensembl
Innerchr12:31019873..31062567hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3842696
hg1942695
hg1842695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1416n100
Supporting Variantsnssv3510629, nssv3505961
Samples
Known GenesTSPAN11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047264
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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