A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404846



Internal ID184191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68974811..68974862hg38UCSC Ensembl
chr2:69201943..69201994hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916031
Samples
Known GenesGKN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404846
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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