A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442004



Internal ID220449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179423149..179436400hg38UCSC Ensembl
chr2:180287876..180301127hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3813252
hg1913252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921234
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442004
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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