A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610031



Internal ID16050754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7004385..7041687hg38UCSC Ensembl
Innerchr8:6861907..6899209hg19UCSC Ensembl
Innerchr8:6849317..6886619hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3837303
hg1937303
hg1837303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1105704
Samples
Known GenesDEFA1, DEFA11P, DEFA1B, DEFA3, DEFT1P, DEFT1P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610031
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