A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518253



Internal ID15445546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:129204239..129430790hg38UCSC Ensembl
Innerchr2:129961812..130188363hg19UCSC Ensembl
Innerchr2:129678282..129904833hg18UCSC Ensembl
Innerchr2:129678042..129904593hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38226552
hg19226552
hg18226552
hg17226552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695684
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518253
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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