A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697961



Internal ID15087927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134552090..134572671hg38UCSC Ensembl
Innerchr5:133887780..133908361hg19UCSC Ensembl
Innerchr5:133915679..133936260hg18UCSC Ensembl
Innerchr5:133915679..133936260hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3820582
hg1920582
hg1820582
hg1720582
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520381
Supporting Variants
Samples
Known GenesJADE2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697961
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