A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv800487



Internal ID15747757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:92735105..92897826hg38UCSC Ensembl
Innerchr12:93128881..93291602hg19UCSC Ensembl
Innerchr12:91653012..91815733hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38162722
hg19162722
hg18162722
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559762
Supporting Variants
Samples
Known GenesEEA1, PLEKHG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv800487
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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