A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527182



Internal ID15454475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:995155..1207412hg38UCSC Ensembl
Innerchr5:995270..1207527hg19UCSC Ensembl
Innerchr5:1048270..1260527hg18UCSC Ensembl
Innerchr5:1048270..1260527hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38212258
hg19212258
hg18212258
hg17212258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703578
Samples
Known GenesLOC100506688, MIR4635, NKD2, SLC12A7, SLC6A19
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527182
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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