A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527994



Internal ID15455287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:126046756..126120299hg38UCSC Ensembl
Innerchr5:125382449..125455992hg19UCSC Ensembl
Innerchr5:125410348..125483891hg18UCSC Ensembl
Innerchr5:125410348..125483891hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3873544
hg1973544
hg1873544
hg1773544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704519
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527994
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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