A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17494081



Internal ID22552011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123422433..123423825hg38UCSC Ensembl
chr5:122758127..122759519hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381393
hg191393
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5841055
Supporting Variants
Samples
Known GenesCEP120
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17494081
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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