A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443711



Internal ID222104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214597997..214598527hg38UCSC Ensembl
chr2:215462721..215463251hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38531
hg19531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730082
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443711
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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