A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444671



Internal ID223042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201508950..201510347hg38UCSC Ensembl
chr2:202373673..202375070hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg381398
hg191398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923710
Samples
Known GenesALS2CR11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444671
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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