A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517220



Internal ID15444513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:79233532..79240342hg38UCSC Ensembl
Innerchr16:79267429..79274239hg19UCSC Ensembl
Innerchr16:77824930..77831740hg18UCSC Ensembl
Innerchr16:77824930..77831740hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg386811
hg196811
hg186811
hg176811
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv677320, nssv688447, nssv666191, nssv668953, nssv687106, nssv696558, nssv687750, nssv662424, nssv670780, nssv671346, nssv654050, nssv664548, nssv654342, nssv667876, nssv659659, nssv683537, nssv679619, nssv655235, nssv692750, nssv666367, nssv659819, nssv653210
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517220
Frequency
Sample Size2026
Observed Gain2
Observed Loss20
Observed Complex0
Frequencyn/a


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