A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049907



Internal ID19139126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19321836..19428595hg38UCSC Ensembl
Innerchr12:19474770..19581529hg19UCSC Ensembl
Innerchr12:19366037..19472796hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38106760
hg19106760
hg18106760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1399n100
Supporting Variantsnssv3710325, nssv3515827, nssv3512804
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)nsv1049907
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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