A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040064



Internal ID19129283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..114887hg38UCSC Ensembl
Innerchr12:150430..224053hg19UCSC Ensembl
Innerchr12:20691..94314hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3869887
hg1973624
hg1873624
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1327n100
Supporting Variantsnssv3519409, nssv3506725
Samples
Known GenesIQSEC3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040064
Frequency
Sample Size11257
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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