A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705811



Internal ID15095777
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522450
Supporting Variants
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)nssv705811
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