A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446167



Internal ID224495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231399632..231410291hg38UCSC Ensembl
chr1:231535378..231546037hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3810660
hg1910660
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896408
Samples
Known GenesEGLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446167
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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