A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417040



Internal ID196247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:118721434..118726129hg38UCSC Ensembl
chr1:119264057..119268752hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg384696
hg194696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889418
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417040
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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