A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600016



Internal ID16040739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:151410812..151415714hg38UCSC Ensembl
Innerchr5:150790373..150795275hg19UCSC Ensembl
Innerchr5:150770566..150775468hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg384903
hg194903
hg184903
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1043658, nssv1043657
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600016
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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