A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597970



Internal ID16385379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45192282..45234439hg38UCSC Ensembl
Innerchr5:45192384..45234541hg19UCSC Ensembl
Innerchr5:45228141..45270298hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3842158
hg1942158
hg1842158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1029654
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597970
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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