A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403887



Internal ID183246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11550524..11550575hg38UCSC Ensembl
chr6:11550757..11550808hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980982
Samples
Known GenesTMEM170B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403887
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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