A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058068



Internal ID18800599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70145428..70212505hg38UCSC Ensembl
Innerchr16:70179331..70246408hg19UCSC Ensembl
Innerchr16:68736832..68803909hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3867078
hg1967078
hg1867078
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719021, nssv3719022, nssv3719023, nssv3559545, nssv3559543, nssv3559544
Samples
Known GenesCLEC18C, PDPR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058068
Frequency
Sample Size29084
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer