A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030649



Internal ID19119868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:114988893..115054484hg38UCSC Ensembl
Innerchr5:114324590..114390181hg19UCSC Ensembl
Innerchr5:114352489..114418080hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3865592
hg1965592
hg1865592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3647081
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)nsv1030649
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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