A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3498322



Internal ID18739277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145642988..145851919hg38UCSC Ensembl
Innerchr1:145583149..145792052hg19UCSC Ensembl
Innerchr1:144294506..144503409hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38208932
hg19208904
hg18208904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015025
Supporting Variants
Samples
Known GenesCD160, GPR89A, LOC100288142, MIR6736, NBPF10, NUDT17, PDZK1, PIAS3, POLR3C, RNF115
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3498322
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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