A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559645



Internal ID16000368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84830362..84936717hg38UCSC Ensembl
Innerchr12:85224141..85330496hg19UCSC Ensembl
Innerchr12:83748272..83854627hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38106356
hg19106356
hg18106356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2761n54
Supporting Variantsnssv799936
Samples
Known GenesSLC6A15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559645
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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