A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16907630



Internal ID5869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103593835..103957835hg38UCSC Ensembl
chr1:104136457..104500457hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38364001
hg19364001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138520
Supporting Variants
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16907630
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000159


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