A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700430



Internal ID15090396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:67174030..67294550hg38UCSC Ensembl
Innerchr16:67207933..67328453hg19UCSC Ensembl
Innerchr16:65765434..65885954hg18UCSC Ensembl
Innerchr16:65765434..65885954hg17UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38120521
hg19120521
hg18120521
hg17120521
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524492
Supporting Variants
Samples
Known GenesE2F4, ELMO3, EXOC3L1, FHOD1, KCTD19, KIAA0895L, LRRC29, MIR328, NOL3, PLEKHG4, SLC9A5, TMEM208
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700430
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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