A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427309



Internal ID206216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32083530..32090747hg38UCSC Ensembl
chr1:32549131..32556348hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg387218
hg197218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901364
Samples
Known GenesTMEM39B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427309
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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