A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv892147



Internal ID15839417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:2701508..2717882hg38UCSC Ensembl
Innerchr19:2701506..2717880hg19UCSC Ensembl
Innerchr19:2652506..2668880hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3816375
hg1916375
hg1816375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv578398
Supporting Variants
Samples
Known GenesDIRAS1, GNG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv892147
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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