A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987200



Internal ID19208081
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 StatusS
Merged Variantsnsv1132424
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987200
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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