A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425905



Internal ID204856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28912242..28919705hg38UCSC Ensembl
chr1:29238754..29246217hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg387464
hg197464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900477
Samples
Known GenesEPB41
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425905
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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