A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612941



Internal ID16053664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144438306..144519234hg38UCSC Ensembl
Innerchr8:145663689..145744618hg19UCSC Ensembl
Innerchr8:145634497..145715426hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3880929
hg1980930
hg1880930
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12439n54
Supporting Variantsnssv1125801
Samples
Known GenesCYHR1, FOXH1, GPT, KIFC2, LOC100287098, LRRC14, MFSD3, PPP1R16A, RECQL4, TONSL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612941
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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