A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446095



Internal ID224424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171977538..171977857hg38UCSC Ensembl
chr2:172842477..172842766hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38320
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922504
Samples
Known GenesHAT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446095
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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