A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175832



Internal ID15509049
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
Samples1782681287_A
Known GenesDDX11, DDX11-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175832
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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