A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998258



Internal ID19189649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20484077..20489878hg38UCSC Ensembl
Outerchr16:20495399..20501200hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg385802
hg195802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146894
Supporting Variants
SamplesKWB1
Known GenesACSM2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998258
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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