A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472994



Internal ID250695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:56944579..56949602hg38UCSC Ensembl
chr4:57810745..57815768hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385024
hg195024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951145
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472994
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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