A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996359



Internal ID19189022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:146186094..146194995hg38UCSC Ensembl
Outerchr1:145243199..145252100hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg388902
hg198902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147576
Supporting Variants
SamplesKWB1
Known GenesLOC100288142, NBPF9, NOTCH2NL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996359
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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