A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132424



Internal ID19276933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29382179..29388979hg38UCSC Ensembl
Outerchr16:29393500..29400300hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg386801
hg196801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987200
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132424
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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