A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034747



Internal ID19123968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135823020..135879494hg38UCSC Ensembl
Innerchr5:135158709..135215183hg19UCSC Ensembl
Innerchr5:135186608..135243082hg18UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3856475
hg1956475
hg1856475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5812n100
Supporting Variantsnssv3648130
Samples
Known GenesSLC25A48
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034747
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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