A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599298



Internal ID16386707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106793794..106879738hg38UCSC Ensembl
Innerchr5:106129495..106215439hg19UCSC Ensembl
Innerchr5:106157394..106243338hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3885945
hg1985945
hg1885945
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9994n54
Supporting Variantsnssv1039778
Samples
Known GenesLOC102467213
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599298
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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