A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441787



Internal ID220239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205195959..205202287hg38UCSC Ensembl
chr1:205165087..205171415hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg386329
hg196329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894759
Samples
Known GenesDSTYK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441787
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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