A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021708



Internal ID19110926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:551114..637175hg38UCSC Ensembl
Innerchr5:551229..637290hg19UCSC Ensembl
Innerchr5:604229..690290hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3886062
hg1986062
hg1886062
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3633222
Samples
Known GenesCEP72, LOC100996325
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021708
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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