A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175830



Internal ID15532874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31057180..31253973hg38UCSC Ensembl
Innerchr12:31210114..31406907hg19UCSC Ensembl
Innerchr12:31101381..31298174hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38196794
hg19196794
hg18196794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558033
Supporting Variants
SamplesHGDP01386
Known GenesDDX11, DDX11-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175830
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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