A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518894



Internal ID15099501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169480301..169607041hg38UCSC Ensembl
Innerchr2:170336811..170463551hg19UCSC Ensembl
Innerchr2:170045057..170171797hg18UCSC Ensembl
Innerchr2:170162318..170289058hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38126741
hg19126741
hg18126741
hg17126741
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696353
Samples
Known GenesBBS5, FASTKD1, KLHL41, PPIG
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518894
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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