A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048621



Internal ID18791152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50483254..50823338hg38UCSC Ensembl
Innerchr15:50775451..51115535hg19UCSC Ensembl
Innerchr15:48562743..48902827hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38340085
hg19340085
hg18340085
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2594n100
Supporting Variantsnssv3552390
Samples
Known GenesSPPL2A, TRPM7, USP50, USP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048621
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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