A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700623



Internal ID15090589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176935313..177242029hg38UCSC Ensembl
Innerchr5:176362314..176669030hg19UCSC Ensembl
Innerchr5:176294920..176601636hg18UCSC Ensembl
Innerchr5:176294920..176601636hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38306717
hg19306717
hg18306717
hg17306717
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524656
Supporting Variants
Samples
Known GenesFGFR4, NSD1, UIMC1, ZNF346
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700623
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