A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600283



Internal ID16041006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172411077..172495207hg38UCSC Ensembl
Innerchr5:171838081..171922211hg19UCSC Ensembl
Innerchr5:171770686..171854816hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3884131
hg1984131
hg1884131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045480
Samples
Known GenesSH3PXD2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600283
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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