A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969209



Internal ID46799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136697616..136697618hg38UCSC Ensembl
chr6:137018754..137018756hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5411427
Supporting Variants
Samples
Known GenesMAP3K5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.077584


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