A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17459443



Internal ID22517327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231399588..231410282hg38UCSC Ensembl
chr1:231535334..231546028hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3810695
hg1910695
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5829538
Supporting Variants
Samples
Known GenesEGLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17459443
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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