A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600733



Internal ID16388142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181448957..181450570hg38UCSC Ensembl
Innerchr5:180875958..180877571hg19UCSC Ensembl
Innerchr5:180808564..180810177hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381614
hg191614
hg181614
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1047551
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600733
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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