A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462219



Internal ID240151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:57028479..57033186hg38UCSC Ensembl
chr4:57894645..57899352hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384708
hg194708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951153
Samples
Known GenesIGFBP7, POLR2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462219
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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