A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572488



Internal ID16359897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:46411236..46464868hg38UCSC Ensembl
Innerchr16:46445148..46498780hg19UCSC Ensembl
Innerchr16:45002649..45056281hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3853633
hg1953633
hg1853633
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5102n54
Supporting Variantsnssv856584, nssv856585
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572488
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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