A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520090



Internal ID15447383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:50230418..50255260hg38UCSC Ensembl
Innerchr7:50270014..50294856hg19UCSC Ensembl
Innerchr7:50240560..50265402hg18UCSC Ensembl
Innerchr7:50047275..50072117hg17UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3824843
hg1924843
hg1824843
hg1724843
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704139, nssv677268, nssv660637
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520090
Frequency
Sample Size2026
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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