A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522808



Internal ID15450101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:194298271..194318766hg38UCSC Ensembl
Innerchr1:194267401..194287896hg19UCSC Ensembl
Innerchr1:192534024..192554519hg18UCSC Ensembl
Innerchr1:190999058..191019553hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3820496
hg1920496
hg1820496
hg1720496
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698454
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522808
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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