A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013172



Internal ID18755703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206474107..206488531hg38UCSC Ensembl
Innerchr1:206647450..206661868hg19UCSC Ensembl
Innerchr1:204714073..204728491hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814425
hg1914419
hg1814419
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv564n100
Supporting Variantsnssv3496915
Samples
Known GenesIKBKE, MIR6769B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013172
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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