A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560144



Internal ID16347553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109713735..109714679hg38UCSC Ensembl
Innerchr12:110151540..110152484hg19UCSC Ensembl
Innerchr12:108635923..108636867hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38945
hg19945
hg18945
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2859n54
Supporting Variantsnssv801990, nssv801989
Samples
Known GenesFAM222A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560144
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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