A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696308



Internal ID15432960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:38313709..38325779hg38UCSC Ensembl
Innerchr5:38313811..38325881hg19UCSC Ensembl
Innerchr5:38349568..38361638hg18UCSC Ensembl
Innerchr5:38349568..38361638hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3812071
hg1912071
hg1812071
hg1712071
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518853
Supporting Variants
Samples
Known GenesEGFLAM
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696308
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