A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442990



Internal ID221397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198316721..198768966hg38UCSC Ensembl
chr1:198285851..198738095hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38452246
hg19452245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894577
Samples
Known GenesATP6V1G3, NEK7, PTPRC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442990
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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