A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610724



Internal ID16051447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:18994964..18999996hg38UCSC Ensembl
Innerchr8:18852474..18857506hg19UCSC Ensembl
Innerchr8:18896754..18901786hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg385033
hg195033
hg185033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12047n54
Supporting Variantsnssv1107420, nssv1107419, nssv1107422, nssv1107423, nssv1107421, nssv1107418
Samples
Known GenesPSD3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610724
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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