A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518180



Internal ID15445473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:11158566..11436192hg38UCSC Ensembl
Innerchr7:11198193..11475819hg19UCSC Ensembl
Innerchr7:11164718..11442344hg18UCSC Ensembl
Innerchr7:10971433..11249059hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38277627
hg19277627
hg18277627
hg17277627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv405n21
Supporting Variantsnssv695600
Samples
Known GenesPHF14, THSD7A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518180
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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