A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612766



Internal ID16400175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143371146..143373392hg38UCSC Ensembl
Innerchr8:144453316..144455562hg19UCSC Ensembl
Innerchr8:144524691..144526937hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382247
hg192247
hg182247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125264
Samples
Known GenesRHPN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612766
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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