A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560642



Internal ID333645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:35625621..35625657hg38UCSC Ensembl
chr1:36091222..36091258hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903690
Samples
Known GenesPSMB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560642
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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