A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138520



Internal ID337704
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 StatusM
Merged Variants
Supporting Variantsnssv16907630
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138520
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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