A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639050



Internal ID18590645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79105611..79149636hg38UCSC Ensembl
Innerchr5:78401434..78445459hg19UCSC Ensembl
Innerchr5:78437190..78481215hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3844026
hg1944026
hg1844026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1019727
Supporting Variants
Samples
Known GenesBHMT
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3639050
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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