A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518230



Internal ID15098837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:137404791..137405723hg38UCSC Ensembl
Innerchr7:137089537..137090469hg19UCSC Ensembl
Innerchr7:136740077..136741009hg18UCSC Ensembl
Innerchr7:136546792..136547724hg17UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38933
hg19933
hg18933
hg17933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695660
Samples
Known GenesDGKI
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518230
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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