A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996133



Internal ID18847123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103697577..103760878hg38UCSC Ensembl
Outerchr1:104240199..104303500hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3863302
hg1963302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150659
Supporting Variants
SamplesKWB1
Known GenesAMY1A, AMY1B, AMY1C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996133
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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