A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906799



Internal ID5319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103594000..103760200hg38UCSC Ensembl
chr1:104136622..104302822hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38166201
hg19166201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138078
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906799
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.217818


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