A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612581



Internal ID16053304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141423771..141451594hg38UCSC Ensembl
Innerchr8:142433871..142461694hg19UCSC Ensembl
Innerchr8:142503053..142530876hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3827824
hg1927824
hg1827824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12368n54
Supporting Variantsnssv1156896, nssv1124293
Samples1782681313_A
Known GenesMROH5, PTP4A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612581
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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