A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522450



Internal ID15103057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232276667..232522925hg38UCSC Ensembl
Innerchr2:233141377..233387635hg19UCSC Ensembl
Innerchr2:232849621..233095879hg18UCSC Ensembl
Innerchr2:232966882..233213140hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38246259
hg19246259
hg18246259
hg17246259
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705811
Samples
Known GenesALPI, ALPP, ALPPL2, DIS3L2, ECEL1, ECEL1P2, PRSS56
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522450
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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