A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019620



Internal ID18762155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79133218..79361144hg38UCSC Ensembl
Innerchr5:78429041..78656967hg19UCSC Ensembl
Innerchr5:78464797..78692723hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38227927
hg19227927
hg18227927
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3747330
Samples
Known GenesJMY
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019620
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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