A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17356227



Internal ID22581896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244750929..246218341hg38UCSC Ensembl
chr1:244914231..246381643hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381467413
hg191467413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881248
Supporting Variants
Samples
Known GenesCOX20, EFCAB2, HNRNPU, HNRNPU-AS1, KIF26B, SMYD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17356227
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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