A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699518



Internal ID15436170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179322865..179324376hg38UCSC Ensembl
Innerchr1:179292000..179293511hg19UCSC Ensembl
Innerchr1:177558623..177560134hg18UCSC Ensembl
Innerchr1:176023657..176025168hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381512
hg191512
hg181512
hg171512
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523708
Supporting Variants
Samples
Known GenesSOAT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699518
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer