A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182430



Internal ID20749470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62563668..62667313hg38UCSC Ensembl
chr17:60641029..60744674hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38103646
hg19103646
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6526303
Supporting Variants
Samples
Known GenesMRC2, TLK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182430
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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