A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584695



Internal ID16025418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232470431..232495797hg38UCSC Ensembl
Innerchr2:233335141..233360507hg19UCSC Ensembl
Innerchr2:233043385..233068751hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3825367
hg1925367
hg1825367
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150762
SamplesHGDP00617
Known GenesECEL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584695
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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