A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419627



Internal ID198757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:36242546..36247973hg38UCSC Ensembl
chr1:36708147..36713574hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg385428
hg195428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17683883
Samples
Known GenesTHRAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419627
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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