A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969212



Internal ID46801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136706771..136706822hg38UCSC Ensembl
chr6:137027909..137027960hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404883
Supporting Variants
Samples
Known GenesMAP3K5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969212
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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