A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521000



Internal ID15101607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157786489..157820856hg38UCSC Ensembl
Innerchr5:157213497..157247864hg19UCSC Ensembl
Innerchr5:157146075..157180442hg18UCSC Ensembl
Innerchr5:157146075..157180442hg17UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3834368
hg1934368
hg1834368
hg1734368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv679650, nssv693477
Samples
Known GenesCLINT1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521000
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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