A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518163



Internal ID15098770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71431304..71444107hg38UCSC Ensembl
Innerchr11:71142350..71155153hg19UCSC Ensembl
Innerchr11:70819998..70832801hg18UCSC Ensembl
Innerchr11:70819998..70832801hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3812804
hg1912804
hg1812804
hg1712804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695584
Samples
Known GenesDHCR7
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518163
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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