A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125184



Internal ID15978370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143211426..143213907hg38UCSC Ensembl
Innerchr8:144292887..144295782hg19UCSC Ensembl
Innerchr8:144364262..144367157hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382482
hg192896
hg182896
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612750
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)nssv1125184
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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