A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896408



Internal ID171754
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 StatusS
Merged Variantsnsv5446167
Supporting Variants
Samples
Known GenesEGLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896408
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.003748


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