A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572500



Internal ID16359909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:46414989..46464989hg38UCSC Ensembl
Innerchr16:46448901..46498901hg19UCSC Ensembl
Innerchr16:45006402..45056402hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3850001
hg1950001
hg1850001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5102n54
Supporting Variantsnssv856598
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572500
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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