A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118567



Internal ID18915827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:13068743..13069743hg38UCSC Ensembl
Outerchr16:13162600..13163600hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959077
SamplesKWS1
Known GenesSHISA9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118567
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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