A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437474



Internal ID216061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:143950481..143950558hg38UCSC Ensembl
chr2:144708048..144708125hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919020
Samples
Known GenesGTDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437474
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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