A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520544



Internal ID15447837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:212766297..212779078hg38UCSC Ensembl
Innerchr2:213631021..213643802hg19UCSC Ensembl
Innerchr2:213339266..213352047hg18UCSC Ensembl
Innerchr2:213456527..213469308hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3812782
hg1912782
hg1812782
hg1712782
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv686138, nssv672352
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520544
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