A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546821



Internal ID320730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136737056..136737087hg38UCSC Ensembl
chr6:137058194..137058225hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969216
Samples
Known GenesMAP3K5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546821
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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