A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425670



Internal ID204627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112712238..112904883hg38UCSC Ensembl
chr1:113254860..113447505hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38192646
hg19192646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908929
Samples
Known GenesFAM19A3, LOC100996702, PPM1J
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425670
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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