A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560768



Internal ID16348177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130916107..130948639hg38UCSC Ensembl
Innerchr12:131400652..131433184hg19UCSC Ensembl
Innerchr12:129966605..129999137hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3832533
hg1932533
hg1832533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2983n54
Supporting Variantsnssv804577
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560768
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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