A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001375



Internal ID19189576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:28599078..28615579hg38UCSC Ensembl
Outerchr16:28610399..28626900hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3816502
hg1916502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153455
Supporting Variants
SamplesKWB1
Known GenesSULT1A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001375
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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