A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4017926



Internal ID22079557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:103620877..103725600hg38UCSC Ensembl
Outerchr1:103616762..103760781hg38UCSC Ensembl
Innerchr1:104163499..104268222hg19UCSC Ensembl
Outerchr1:104159384..104303403hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38144020
hg19144020
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156100
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4017926
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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