A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028217



Internal ID19117435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:103700839..103751376hg38UCSC Ensembl
Innerchr5:103036540..103087077hg19UCSC Ensembl
Innerchr5:103064439..103114976hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3850538
hg1950538
hg1850538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5752n100
Supporting Variantsnssv3645914, nssv3645913
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)nsv1028217
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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