A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032763



Internal ID18775297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34541999..34585020hg38UCSC Ensembl
Innerchr6:34509776..34552797hg19UCSC Ensembl
Innerchr6:34617754..34660775hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3843022
hg1943022
hg1843022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5954n100
Supporting Variantsnssv3657353
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)nsv1032763
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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