A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517713



Internal ID15098320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21563897..21728953hg38UCSC Ensembl
Innerchr16:21575218..21740274hg19UCSC Ensembl
Innerchr16:21482719..21647775hg18UCSC Ensembl
Innerchr16:21482719..21647775hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38165057
hg19165057
hg18165057
hg17165057
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv652928, nssv684474, nssv694215, nssv702216
Samples
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517713
Frequency
Sample Size2026
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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