A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035292



Internal ID19124511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19332423..19414510hg38UCSC Ensembl
Innerchr12:19485357..19567444hg19UCSC Ensembl
Innerchr12:19376624..19458711hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3882088
hg1982088
hg1882088
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1399n100
Supporting Variantsnssv3503622
Samples
Known GenesPLEKHA5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035292
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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