A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697404



Internal ID15087370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179792466..179825467hg38UCSC Ensembl
Innerchr1:179761601..179794602hg19UCSC Ensembl
Innerchr1:178028224..178061225hg18UCSC Ensembl
Innerchr1:176493258..176526259hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3833002
hg1933002
hg1833002
hg1733002
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520418
Supporting Variants
Samples
Known GenesFAM163A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697404
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