A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518183



Internal ID15445476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70458349..70463773hg38UCSC Ensembl
Innerchr4:71324066..71329490hg19UCSC Ensembl
Innerchr4:71358655..71364079hg18UCSC Ensembl
Innerchr4:71504826..71510250hg17UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg385425
hg195425
hg185425
hg175425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695604
Samples
Known GenesMUC7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518183
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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