A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv652116



Internal ID15388768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:364930..380011hg38UCSC Ensembl
Innerchr16:414930..430011hg19UCSC Ensembl
Innerchr16:354931..370012hg18UCSC Ensembl
Innerchr16:354931..370012hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3815082
hg1915082
hg18n/a
hg17n/a
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517471
Supporting Variants
Samples
Known GenesMRPL28, TMEM8A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv652116
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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