A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048317



Internal ID18790848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:44860173..45034007hg38UCSC Ensembl
Innerchr15:45152371..45326205hg19UCSC Ensembl
Innerchr15:42939663..43113497hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg38173835
hg19173835
hg18173835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2590n100
Supporting Variantsnssv3552361
Samples
Known GenesC15orf43, SORD
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048317
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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