A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559959



Internal ID332977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150119286..150119286hg38UCSC Ensembl
chr1:150091404..150091404hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38728
hg19728
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891137
Samples
Known GenesVPS45
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559959
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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