A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv683186



Internal ID15073152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:605686..748489hg38UCSC Ensembl
Innerchr16:655686..798489hg19UCSC Ensembl
Innerchr16:595687..738490hg18UCSC Ensembl
Innerchr16:595687..738490hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38142804
hg19142804
hg18142804
hg17142804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516590
Supporting Variants
Samples
Known GenesC16orf13, CCDC78, FAM173A, FAM195A, FBXL16, HAGHL, JMJD8, METRN, NARFL, RAB40C, RHBDL1, RHOT2, STUB1, WDR24, WDR90, WFIKKN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv683186
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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