A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179601



Internal ID20746641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80367820..80421647hg38UCSC Ensembl
chr17:78341620..78395447hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3853828
hg1953828
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534356
Supporting Variants
Samples
Known GenesENDOV, LOC100294362, MIR4730, RNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179601
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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