A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400995



Internal ID180372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100060061..100060112hg38UCSC Ensembl
chr1:100525617..100525668hg19UCSC Ensembl
Cytoband1p21.2
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 Variantsnssv16908601
Samples
Known GenesHIAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400995
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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