A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17507383



Internal ID22565331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51743439..51746842hg38UCSC Ensembl
chr8:52655999..52659402hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg383404
hg193404
Variant TypeOTHER copy number variation
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5850334
Supporting Variants
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17507383
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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