A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573799



Internal ID16014522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89852186..90022379hg38UCSC Ensembl
Innerchr16:89918594..90088787hg19UCSC Ensembl
Innerchr16:88446095..88616288hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38170194
hg19170194
hg18170194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv863661
Samples
Known GenesAFG3L1P, CENPBD1, DBNDD1, DEF8, GAS8, MC1R, SPIRE2, TCF25, TUBB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573799
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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