A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040562



Internal ID19129781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52042..115187hg38UCSC Ensembl
Innerchr12:161208..224353hg19UCSC Ensembl
Innerchr12:31469..94614hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3863146
hg1963146
hg1863146
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1326n100
Supporting Variantsnssv3507764
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)nsv1040562
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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