A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430287



Internal ID209101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8825765..8826813hg38UCSC Ensembl
chr1:8885824..8886872hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889426
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430287
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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