A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049890



Internal ID19139109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19312553..19397902hg38UCSC Ensembl
Innerchr12:19465487..19550836hg19UCSC Ensembl
Innerchr12:19356754..19442103hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3885350
hg1985350
hg1885350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1398n100
Supporting Variantsnssv3513451
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)nsv1049890
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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