A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195964



Internal ID20763004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80235082..80265342hg38UCSC Ensembl
chr17:78208881..78239141hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3830261
hg1930261
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6517513
Supporting Variants
Samples
Known GenesRNF213, SLC26A11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195964
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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