A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045411



Internal ID19134630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:45001..116533hg38UCSC Ensembl
Innerchr12:150430..225699hg19UCSC Ensembl
Innerchr12:20691..95960hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3871533
hg1975270
hg1875270
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1328n100
Supporting Variantsnssv3521308, nssv3521391, nssv3508606, nssv3515769, nssv3515936, nssv3503377
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)nsv1045411
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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