A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138078



Internal ID337260
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 StatusM
Merged Variants
Supporting Variantsnssv16906799
Samples
Known GenesAMY1A, AMY1B, AMY1C, AMY2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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