A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694937



Internal ID15431589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:233146464..233173672hg38UCSC Ensembl
Innerchr1:233282210..233309418hg19UCSC Ensembl
Innerchr1:231348833..231376041hg18UCSC Ensembl
Innerchr1:229588945..229616153hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3827209
hg1927209
hg1827209
hg1727209
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522164
Supporting Variants
Samples
Known GenesPCNXL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694937
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