A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800707



Internal ID15747977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93570630..93571360hg38UCSC Ensembl
Innerchr12:93964406..93965136hg19UCSC Ensembl
Innerchr12:92488537..92489267hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38731
hg19731
hg18731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559778
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)nssv800707
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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