A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453637



Internal ID231752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:183091108..183091194hg38UCSC Ensembl
chr1:183060243..183060329hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893093
Samples
Known GenesLAMC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453637
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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