A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125238



Internal ID15978424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143211426..143213308hg38UCSC Ensembl
Innerchr8:144292989..144295183hg19UCSC Ensembl
Innerchr8:144364364..144366558hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381883
hg192195
hg182195
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612758
Supporting Variants
Samples
Known GenesGPIHBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1125238
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