A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176280



Internal ID15533993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31113353..31257887hg38UCSC Ensembl
Innerchr12:31266287..31410821hg19UCSC Ensembl
Innerchr12:31157554..31302088hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38144535
hg19144535
hg18144535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv558046
Supporting Variants
SamplesNINDS_245
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176280
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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