A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv785836



Internal ID15733106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:152875..201168hg38UCSC Ensembl
Innerchr12:262041..310334hg19UCSC Ensembl
Innerchr12:132302..180595hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3848294
hg1948294
hg1848294
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv556854
Supporting Variants
Samples
Known GenesIQSEC3, SLC6A12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv785836
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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