A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525478



Internal ID15106085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:36804123..37349793hg38UCSC Ensembl
Innerchr5:36804225..37349895hg19UCSC Ensembl
Innerchr5:36839982..37385652hg18UCSC Ensembl
Innerchr5:36839982..37385652hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38545671
hg19545671
hg18545671
hg17545671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701606
Samples
Known GenesC5orf42, LOC646719, NIPBL, NUP155
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525478
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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