A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612957



Internal ID16053680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144498036..144516381hg38UCSC Ensembl
Innerchr8:145723419..145741765hg19UCSC Ensembl
Innerchr8:145694227..145712573hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3818346
hg1918347
hg1818347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12442n54
Supporting Variantsnssv1125819
Samples
Known GenesGPT, MFSD3, PPP1R16A, RECQL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612957
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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