A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3650338



Internal ID18948619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181018209..181064462hg38UCSC Ensembl
Innerchr5:180445209..180491462hg19UCSC Ensembl
Innerchr5:180377815..180424068hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3846254
hg1946254
hg1846254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029960
Supporting Variants
Samples
Known GenesBTNL9, MIR8089
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3650338
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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