A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030463



Internal ID18772994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28912164..29114290hg38UCSC Ensembl
Innerchr8:28769681..28971807hg19UCSC Ensembl
Innerchr8:28825600..29027726hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38202127
hg19202127
hg18202127
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3685550
Samples
Known GenesHMBOX1, KIF13B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030463
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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