A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516495



Internal ID15097102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141576210..141624764hg38UCSC Ensembl
Innerchr5:140955777..141004331hg19UCSC Ensembl
Innerchr5:140935961..140984515hg18UCSC Ensembl
Innerchr5:140935961..140984515hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3848555
hg1948555
hg1848555
hg1748555
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695194, nssv680723, nssv654714, nssv668684
Samples
Known GenesDIAPH1, HDAC3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516495
Frequency
Sample Size2026
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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