A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518310



Internal ID15445603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:177776319..177895419hg38UCSC Ensembl
Innerchr1:177745454..177864554hg19UCSC Ensembl
Innerchr1:176012077..176131177hg18UCSC Ensembl
Innerchr1:174477111..174596211hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38119101
hg19119101
hg18119101
hg17119101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695741
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518310
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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