A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517680



Internal ID15098287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22425219..22552644hg38UCSC Ensembl
Innerchr8:22282732..22410157hg19UCSC Ensembl
Innerchr8:22338677..22466102hg18UCSC Ensembl
Innerchr8:22338677..22466102hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38127426
hg19127426
hg18127426
hg17127426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv451n21
Supporting Variantsnssv686012, nssv690731, nssv699362, nssv655543, nssv652830, nssv682788, nssv697127, nssv686788, nssv656034, nssv657123, nssv664905
Samples
Known GenesPPP3CC, SLC39A14, SORBS3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517680
Frequency
Sample Size2026
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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