A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444818



Internal ID223183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144126356..144140682hg38UCSC Ensembl
chr2:144883923..144898249hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3814327
hg1914327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920798
Samples
Known GenesGTDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444818
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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