A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5535012



Internal ID310729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209593752..209593763hg38UCSC Ensembl
chr1:209767097..209767108hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896970
Samples
Known GenesCAMK1G
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5535012
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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