A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612940



Internal ID16053663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144436292..144613673hg38UCSC Ensembl
Innerchr8:145661675..145839058hg19UCSC Ensembl
Innerchr8:145632483..145809866hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38177382
hg19177384
hg18177384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125800
Samples
Known GenesARHGAP39, C8orf82, CYHR1, FOXH1, GPT, KIFC2, LOC100287098, 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)nsv612940
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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