A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033350



Internal ID18775884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76071984..76242635hg38UCSC Ensembl
Innerchr5:75367809..75538460hg19UCSC Ensembl
Innerchr5:75403565..75574216hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38170652
hg19170652
hg18170652
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3641075
Samples
Known GenesSV2C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033350
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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