A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483044



Internal ID15235518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:84166395..87066394hg38UCSC Ensembl
Outerchr16:84200001..87100000hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg382900000
hg192900000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996364, nssv2996171, nssv2996406
Samples
Known GenesADAD2, ATP2C2, C16orf74, COTL1, COX4I1, CRISPLD2, DNAAF1, EMC8, FAM92B, FENDRR, FLJ30679, FOXC2, FOXF1, FOXL1, GINS2, GSE1, IRF8, KCNG4, KIAA0513, KLHL36, LINC00311, LINC00917, LINC01081, LINC01082, LOC146513, LOC400548, MIR1910, MIR5093, MIR6774, MIR7851, MTHFSD, TAF1C, TLDC1, USP10, WFDC1, ZDHHC7
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483044
Frequency
Sample Size39
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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