A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440161



Internal ID218677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241148961..241149197hg38UCSC Ensembl
chr2:242088376..242088612hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927163
Samples
Known GenesPASK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440161
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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