A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519307



Internal ID15099914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179796951..179826370hg38UCSC Ensembl
Innerchr1:179766086..179795505hg19UCSC Ensembl
Innerchr1:178032709..178062128hg18UCSC Ensembl
Innerchr1:176497743..176527162hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3829420
hg1929420
hg1829420
hg1729420
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv19n21
Supporting Variantsnssv696780
Samples
Known GenesFAM163A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519307
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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