A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1120317



Internal ID19254563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:4065758..4095191hg38UCSC Ensembl
Outerchr16:4115759..4145192hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3829434
hg1929434
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961885
SamplesKWS1
Known GenesADCY9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1120317
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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