A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557732



Internal ID330821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158106692..158106731hg38UCSC Ensembl
chr2:158963204..158963243hg19UCSC Ensembl
Cytoband2q24.1
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 Variantsnssv16921647
Samples
Known GenesUPP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557732
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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