A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523773



Internal ID15451066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9357830..9358841hg38UCSC Ensembl
Innerchr5:9357942..9358953hg19UCSC Ensembl
Innerchr5:9410942..9411953hg18UCSC Ensembl
Innerchr5:9410942..9411953hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381012
hg191012
hg181012
hg171012
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699595
Samples
Known GenesSEMA5A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523773
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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