A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548998



Internal ID322700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:129857863..129857903hg38UCSC Ensembl
chr6:130179008..130179048hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969412
Samples
Known GenesTMEM244
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548998
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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