A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701216



Internal ID15091182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:55758785..55766695hg38UCSC Ensembl
Innerchr5:55054613..55062523hg19UCSC Ensembl
Innerchr5:55090370..55098280hg18UCSC Ensembl
Innerchr5:55090370..55098280hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg387911
hg197911
hg187911
hg177911
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525146
Supporting Variants
Samples
Known GenesDDX4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701216
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