A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029822



Internal ID19119041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178445332..178504888hg38UCSC Ensembl
Innerchr5:177872333..177931889hg19UCSC Ensembl
Innerchr5:177804939..177864495hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3859557
hg1959557
hg1859557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3649288
Samples
Known GenesCOL23A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029822
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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