A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1030145



Internal ID15883331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50146132..50251254hg38UCSC Ensembl
Innerchr5:49441966..49547088hg19UCSC Ensembl
Innerchr5:49477723..49582845hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38105123
hg19105123
hg18105123
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598091
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1030145
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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