A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598931



Internal ID16386340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:90962767..91011335hg38UCSC Ensembl
Innerchr5:90258584..90307152hg19UCSC Ensembl
Innerchr5:90294340..90342908hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3848569
hg1948569
hg1848569
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9934n54
Supporting Variantsnssv1036464
Samples
Known GenesGPR98
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598931
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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