A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521757



Internal ID15102364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202811402..202812036hg38UCSC Ensembl
Innerchr1:202780530..202781164hg19UCSC Ensembl
Innerchr1:201047153..201047787hg18UCSC Ensembl
Innerchr1:199512187..199512821hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38635
hg19635
hg18635
hg17635
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694524
Samples
Known GenesPCAT6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521757
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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