A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060034



Internal ID18802565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55111224..55138729hg38UCSC Ensembl
Innerchr19:55622592..55650097hg19UCSC Ensembl
Innerchr19:60314404..60341909hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3827506
hg1927506
hg1827506
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3570430
Samples
Known GenesPPP1R12C, TNNT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060034
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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