A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598146



Internal ID16385555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:51961502..52079679hg38UCSC Ensembl
Innerchr5:51257336..51375513hg19UCSC Ensembl
Innerchr5:51293093..51411270hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38118178
hg19118178
hg18118178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030331
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598146
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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