A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3746656



Internal ID18698251
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 StatusS
Merged Variantsnsv1015362
Supporting Variants
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)nssv3746656
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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