A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv677727



Internal ID15414379
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
hg1815082
hg1715082
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)nssv677727
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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