A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176233



Internal ID15881155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84652..169210hg38UCSC Ensembl
Innerchr12:193818..278376hg19UCSC Ensembl
Innerchr12:64079..148637hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3884559
hg1984559
hg1884559
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv556852
Supporting Variants
SamplesNINDS_73
Known GenesIQSEC3, LOC574538
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176233
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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