A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18217890



Internal ID20784930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:56334501..56612800hg38UCSC Ensembl
chr7:56402194..56680493hg19UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg38278300
hg19278300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6612351
Supporting Variants
Samples
Known GenesDKFZp434L192, LOC100240728, LOC101928401, LOC650226
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18217890
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.98156


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