A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584684



Internal ID16025407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232341294..232429063hg38UCSC Ensembl
Innerchr2:233206004..233293773hg19UCSC Ensembl
Innerchr2:232914248..233002017hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3887770
hg1987770
hg1887770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7336n54
Supporting Variantsnssv1150757
SamplesHGDP00977
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584684
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