A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516836



Internal ID15444129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:77827823..78060765hg38UCSC Ensembl
Innerchr4:78748977..78981919hg19UCSC Ensembl
Innerchr4:78968001..79200943hg18UCSC Ensembl
Innerchr4:79106156..79339098hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg38232943
hg19232943
hg18232943
hg17232943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654330, nssv661580
Samples
Known GenesFRAS1, MRPL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516836
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer