A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14385670



Internal ID22142422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103594616..103767378hg38UCSC Ensembl
chr1:104137238..104310000hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38172763
hg19172763
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206669
Supporting Variants
SamplesHG00513
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14385670
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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