A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423753



Internal ID202765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44111872..44115368hg38UCSC Ensembl
chr1:44577544..44581040hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383497
hg193497
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902550
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423753
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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