A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411515



Internal ID190822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44555740..44555791hg38UCSC Ensembl
chr3:44597232..44597283hg19UCSC Ensembl
Cytoband3p21.31
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 Variantsnssv16933651
Samples
Known GenesZKSCAN7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411515
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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