A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550237



Internal ID323815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44616699..44616710hg38UCSC Ensembl
chr7:44656298..44656309hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995501
Samples
Known GenesOGDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550237
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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