A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148227



Internal ID18856183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8560997..8568698hg38UCSC Ensembl
Outerchr16:8610999..8618700hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg387702
hg197702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4001739
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148227
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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