A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418232



Internal ID197409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143496696..143969043hg38UCSC Ensembl
chr1:149018779..149433401hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38472348
hg19414623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889501
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, NBPF23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418232
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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