A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519691



Internal ID15446984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208074142..208075299hg38UCSC Ensembl
Innerchr2:208938866..208940023hg19UCSC Ensembl
Innerchr2:208647111..208648268hg18UCSC Ensembl
Innerchr2:208764372..208765529hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381158
hg191158
hg181158
hg171158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684227, nssv657589, nssv685044
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519691
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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