A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015362



Internal ID18757896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154215521..154450098hg38UCSC Ensembl
Innerchr5:153595081..153829658hg19UCSC Ensembl
Innerchr5:153575274..153809851hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38234578
hg19234578
hg18234578
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746656
Samples
Known GenesGALNT10, SAP30L, SAP30L-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1015362
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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