A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673330



Internal ID15063296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225838705..225891215hg38UCSC Ensembl
Innerchr1:226026406..226078915hg19UCSC Ensembl
Innerchr1:224093029..224145538hg18UCSC Ensembl
Innerchr1:222333141..222385650hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3852511
hg1952510
hg1852510
hg1752510
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520628
Supporting Variants
Samples
Known GenesEPHX1, LEFTY1, TMEM63A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673330
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