A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612945



Internal ID16053668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144463603..144474005hg38UCSC Ensembl
Innerchr8:145688986..145699388hg19UCSC Ensembl
Innerchr8:145659794..145670196hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3810403
hg1910403
hg1810403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12440n54
Supporting Variantsnssv1125804
Samples
Known GenesCYHR1, FOXH1, KIFC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612945
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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