A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582512



Internal ID16369921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:97656171..97661341hg38UCSC Ensembl
Innerchr2:98272634..98277804hg19UCSC Ensembl
Innerchr2:97639066..97644236hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg385171
hg195171
hg185171
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv914142
Samples
Known GenesACTR1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582512
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