A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019372



Internal ID19108590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:588348..685633hg38UCSC Ensembl
Innerchr5:588463..685748hg19UCSC Ensembl
Innerchr5:641463..738748hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3897286
hg1997286
hg1897286
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5521n100
Supporting Variantsnssv3633226
Samples
Known GenesCEP72, LOC100996325, TPPP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019372
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer