A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435300



Internal ID213951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245009472..245009530hg38UCSC Ensembl
chr1:245172774..245172832hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897748
Samples
Known GenesEFCAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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