A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612944



Internal ID16053667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144441636..144525122hg38UCSC Ensembl
Innerchr8:145667019..145750506hg19UCSC Ensembl
Innerchr8:145637827..145721314hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3883487
hg1983488
hg1883488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12439n54
Supporting Variantsnssv1156390
SamplesHGDP00433
Known GenesCYHR1, FOXH1, GPT, KIFC2, LRRC14, LRRC24, MFSD3, PPP1R16A, RECQL4, TONSL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612944
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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