A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978117



Internal ID18613322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:22698614..22769183hg38UCSC Ensembl
Innerchr16:22709935..22780504hg19UCSC Ensembl
Innerchr16:22617436..22688005hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg3870570
hg1970570
hg1870570
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2765077
SamplesHGDP00542
Known GenesMIR548AA2, MIR548D2
MethodSequencing
AnalysisHuman CNVs
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978117
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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