A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597750



Internal ID16385159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:28935946..29145548hg38UCSC Ensembl
Innerchr5:28936053..29145655hg19UCSC Ensembl
Innerchr5:28971810..29181412hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38209603
hg19209603
hg18209603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9713n54
Supporting Variantsnssv1028844
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597750
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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