A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801992



Internal ID16095948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109713735..109714801hg38UCSC Ensembl
Innerchr12:110151540..110152606hg19UCSC Ensembl
Innerchr12:108635923..108636989hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381067
hg191067
hg181067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560146
Supporting Variants
Samples
Known GenesFAM222A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801992
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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