A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111143



Internal ID18926676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:84219450..84226725hg38UCSC Ensembl
Outerchr16:84253056..84260331hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg387276
hg197276
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962375
SamplesKWS1
Known GenesKCNG4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111143
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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