A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430370



Internal ID209180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153775835..153776752hg38UCSC Ensembl
chr1:153748311..153749228hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38918
hg19918
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890627
Samples
Known GenesSLC27A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430370
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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