A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033147



Internal ID18775681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1717188..1815707hg38UCSC Ensembl
Innerchr5:1717303..1815821hg19UCSC Ensembl
Innerchr5:1770303..1868821hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3898520
hg1998519
hg1898519
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3638510
Samples
Known GenesMRPL36, NDUFS6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033147
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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