A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176236



Internal ID15533798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:475188..508815hg38UCSC Ensembl
Innerchr12:584354..617981hg19UCSC Ensembl
Innerchr12:454615..488242hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3833628
hg1933628
hg1833628
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv556876
Supporting Variants
SamplesNINDS_217
Known GenesB4GALNT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176236
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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