A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526699



Internal ID15107306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207063179..207070506hg38UCSC Ensembl
Innerchr1:207236524..207243851hg19UCSC Ensembl
Innerchr1:205303147..205310474hg18UCSC Ensembl
Innerchr1:203624919..203632246hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg387328
hg197328
hg187328
hg177328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703038
Samples
Known GenesPFKFB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526699
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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