A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559647



Internal ID16000370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:84839952..84945475hg38UCSC Ensembl
Innerchr12:85233731..85339254hg19UCSC Ensembl
Innerchr12:83757862..83863385hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38105524
hg19105524
hg18105524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2761n54
Supporting Variantsnssv799940, nssv799939, nssv799938
Samples
Known GenesSLC6A15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559647
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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