A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17504957



Internal ID22562901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112766819..112770091hg38UCSC Ensembl
chr8:113779048..113782320hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg383273
hg193273
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5853789
Supporting Variants
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17504957
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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