A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419547



Internal ID198676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156198296..156198583hg38UCSC Ensembl
chr1:156168087..156168374hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38288
hg19288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891273
Samples
Known GenesSLC25A44
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419547
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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