A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516250



Internal ID15443543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:74192127..74209574hg38UCSC Ensembl
Innerchr5:73487952..73505399hg19UCSC Ensembl
Innerchr5:73523708..73541155hg18UCSC Ensembl
Innerchr5:73523708..73541155hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3817448
hg1917448
hg1817448
hg1717448
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv345n21
Supporting Variantsnssv667072, nssv679984
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516250
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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