A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612857



Internal ID16400266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143616727..143632493hg38UCSC Ensembl
Innerchr8:144698897..144714663hg19UCSC Ensembl
Innerchr8:144770040..144785806hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3815767
hg1915767
hg1815767
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12427n54
Supporting Variantsnssv1125565, nssv1125566
Samples
Known GenesTSTA3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612857
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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