A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030299



Internal ID19119518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78730729..78769157hg38UCSC Ensembl
Innerchr5:78026552..78064980hg19UCSC Ensembl
Innerchr5:78062308..78100736hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3838429
hg1938429
hg1838429
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3639048
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030299
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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