A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430401



Internal ID209211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171178861..171178922hg38UCSC Ensembl
chr1:171148000..171148061hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892222
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430401
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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