A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560132



Internal ID16000855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109712747..109714969hg38UCSC Ensembl
Innerchr12:110150552..110152774hg19UCSC Ensembl
Innerchr12:108634935..108637157hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382223
hg192223
hg182223
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801949, nssv801951, nssv801950
Samples
Known GenesFAM222A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560132
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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