A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515962



Internal ID15096569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:153779663..153800953hg38UCSC Ensembl
Innerchr1:153752139..153773429hg19UCSC Ensembl
Innerchr1:152018763..152040053hg18UCSC Ensembl
Innerchr1:150565212..150586502hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3821291
hg1921291
hg1821291
hg1721291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655021, nssv665486, nssv686798, nssv661360, nssv661377, nssv670770, nssv660164, nssv654683, nssv692910, nssv690230, nssv661817, nssv689445, nssv700310
Samples
Known GenesSLC27A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515962
Frequency
Sample Size2026
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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