A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584688



Internal ID16025411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232350750..232450598hg38UCSC Ensembl
Innerchr2:233215460..233315308hg19UCSC Ensembl
Innerchr2:232923704..233023552hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3899849
hg1999849
hg1899849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7336n54
Supporting Variantsnssv1150760
SamplesHGDP00799
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584688
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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