A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067173



Internal ID18809704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:88707330..88846491hg38UCSC Ensembl
Innerchr16:88773738..88912899hg19UCSC Ensembl
Innerchr16:87301239..87440400hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38139162
hg19139162
hg18139162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3064n100
Supporting Variantsnssv3559992
Samples
Known GenesAPRT, CDT1, CTU2, GALNS, LOC100289580, MIR4722, PIEZO1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067173
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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