A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599819



Internal ID16040542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:138622625..138645166hg38UCSC Ensembl
Innerchr5:137958314..137980855hg19UCSC Ensembl
Innerchr5:137986213..138008754hg18UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3822542
hg1922542
hg1822542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042095
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599819
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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