A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446417



Internal ID224740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214243571..214244278hg38UCSC Ensembl
chr1:214416914..214417621hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896195
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446417
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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