A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418007



Internal ID197189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22899123..22900126hg38UCSC Ensembl
chr1:23225616..23226619hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381004
hg191004
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900102
Samples
Known GenesEPHB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418007
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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