A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521647



Internal ID15102254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:197495318..197560088hg38UCSC Ensembl
Innerchr1:197464448..197529218hg19UCSC Ensembl
Innerchr1:195731071..195795841hg18UCSC Ensembl
Innerchr1:194196105..194260875hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3864771
hg1964771
hg1864771
hg1764771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698265
Samples
Known GenesDENND1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521647
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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