A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv664983



Internal ID15401635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130017357..130034640hg38UCSC Ensembl
Innerchr2:130774930..130792213hg19UCSC Ensembl
Innerchr2:130491400..130508683hg18UCSC Ensembl
Innerchr2:130491160..130508443hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3817284
hg1917284
hg1817284
hg1717284
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517144
Supporting Variants
Samples
Known GenesFAR2P1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv664983
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