A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419634



Internal ID198764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:69712178..69712322hg38UCSC Ensembl
chr1:70177861..70178005hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904603
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419634
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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