A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17495000



Internal ID22552932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178488949..178538420hg38UCSC Ensembl
chr5:177915950..177965421hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3849472
hg1949472
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5841926
Supporting Variants
Samples
Known GenesCOL23A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17495000
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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