A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453657



Internal ID231772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144713696..144715204hg38UCSC Ensembl
chr2:145471263..145472771hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg381509
hg191509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920442
Samples
Known GenesTEX41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453657
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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