A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443049



Internal ID221454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:103148599..103149464hg38UCSC Ensembl
chr2:103765057..103765922hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917075
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443049
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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