A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110288



Internal ID19277137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:61782496..61786796hg38UCSC Ensembl
Outerchr16:61816400..61820700hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg384301
hg194301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959558
SamplesKWS1
Known GenesCDH8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110288
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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