A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412669



Internal ID191971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73859063..73859114hg38UCSC Ensembl
chr2:74086190..74086241hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914055
Samples
Known GenesSTAMBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412669
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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