A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378561



Internal ID22436431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80313643..80315887hg38UCSC Ensembl
chr17:78287443..78289687hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382245
hg192245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943823
Supporting Variants
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378561
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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