A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612751



Internal ID16400160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143211426..143219176hg38UCSC Ensembl
Innerchr8:144292887..144301346hg19UCSC Ensembl
Innerchr8:144364262..144372721hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387751
hg198460
hg188460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125185
Samples
Known GenesGPIHBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612751
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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