A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572538



Internal ID16359947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48381700..48385348hg38UCSC Ensembl
Innerchr16:48415611..48419259hg19UCSC Ensembl
Innerchr16:46973112..46976760hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg383649
hg193649
hg183649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5109n54
Supporting Variantsnssv856650
Samples
Known GenesMIR548AE2, SIAH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572538
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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