A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612963



Internal ID16053686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144504742..144518490hg38UCSC Ensembl
Innerchr8:145730125..145743874hg19UCSC Ensembl
Innerchr8:145700933..145714682hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3813749
hg1913750
hg1813750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12443n54
Supporting Variantsnssv1125826
Samples
Known GenesGPT, LRRC14, MFSD3, RECQL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612963
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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