A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv680951



Internal ID15417603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:68142258..68176683hg38UCSC Ensembl
InnerchrX:67362100..67396525hg19UCSC Ensembl
InnerchrX:67278825..67313250hg18UCSC Ensembl
InnerchrX:67145121..67179546hg17UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg3834426
hg1934426
hg1834426
hg1734426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517446
Supporting Variants
Samples
Known GenesOPHN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv680951
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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