A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571290



Internal ID16358699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:4315444..4316611hg38UCSC Ensembl
Innerchr16:4365445..4366612hg19UCSC Ensembl
Innerchr16:4305446..4306613hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381168
hg191168
hg181168
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4882n54
Supporting Variantsnssv852324, nssv852323, nssv852325
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571290
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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