A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052964



Internal ID19142183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:19321836..19418470hg38UCSC Ensembl
Innerchr12:19474770..19571404hg19UCSC Ensembl
Innerchr12:19366037..19462671hg18UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3896635
hg1996635
hg1896635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1399n100
Supporting Variantsnssv3518934, nssv3506676
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)nsv1052964
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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