A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612729



Internal ID16053452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143204303..143214242hg38UCSC Ensembl
Innerchr8:144285764..144296117hg19UCSC Ensembl
Innerchr8:144357139..144367492hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389940
hg1910354
hg1810354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124960
Samples
Known GenesGPIHBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612729
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