A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518711



Internal ID15099318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40827205..40835525hg38UCSC Ensembl
Innerchr5:40827307..40835627hg19UCSC Ensembl
Innerchr5:40863064..40871384hg18UCSC Ensembl
Innerchr5:40863064..40871384hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg388321
hg198321
hg188321
hg178321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696161
Samples
Known GenesLOC100506548, RPL37, SNORD72
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518711
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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