A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438316



Internal ID216884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229405502..229405572hg38UCSC Ensembl
chr2:230270218..230270288hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924994
Samples
Known GenesDNER
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438316
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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