A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412005



Internal ID191309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200424060..200424111hg38UCSC Ensembl
chr2:201288783..201288834hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922829
Samples
Known GenesSPATS2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412005
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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