A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008277



Internal ID18750808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205101394..205152107hg38UCSC Ensembl
Innerchr1:205070522..205121235hg19UCSC Ensembl
Innerchr1:203337145..203387858hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3850714
hg1950714
hg1850714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv563n100
Supporting Variantsnssv3495815
Samples
Known GenesDSTYK, RBBP5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008277
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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