A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518219



Internal ID15445512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:50230076..50255260hg38UCSC Ensembl
Innerchr7:50269672..50294856hg19UCSC Ensembl
Innerchr7:50240218..50265402hg18UCSC Ensembl
Innerchr7:50046933..50072117hg17UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3825185
hg1925185
hg1825185
hg1725185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695644
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518219
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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