A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800710



Internal ID15747980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93570794..93572088hg38UCSC Ensembl
Innerchr12:93964570..93965864hg19UCSC Ensembl
Innerchr12:92488701..92489995hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381295
hg191295
hg181295
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559781
Supporting Variants
Samples
Known GenesSOCS2, SOCS2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800710
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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