A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023870



Internal ID18766403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34541999..34576264hg38UCSC Ensembl
Innerchr6:34509776..34544041hg19UCSC Ensembl
Innerchr6:34617754..34652019hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3834266
hg1934266
hg1834266
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5954n100
Supporting Variantsnssv3657350, nssv3657351
Samples
Known GenesSPDEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023870
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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