A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517049



Internal ID15444342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:90707314..90966658hg38UCSC Ensembl
Innerchr5:90003131..90262475hg19UCSC Ensembl
Innerchr5:90038887..90298231hg18UCSC Ensembl
Innerchr5:90038887..90298231hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38259345
hg19259345
hg18259345
hg17259345
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv654017, nssv674060, nssv692598, nssv653689, nssv684629, nssv677927
Samples
Known GenesGPR98
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517049
Frequency
Sample Size2026
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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