A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442984



Internal ID221391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240592911..240593424hg38UCSC Ensembl
chr1:240756211..240756724hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38514
hg19514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899765
Samples
Known GenesGREM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442984
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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