A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555345



Internal ID328504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:41153114..41153165hg38UCSC Ensembl
chr1:41618786..41618837hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902092
Samples
Known GenesSCMH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555345
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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