A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234502



Internal ID20801542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:79689524..79780575hg38UCSC Ensembl
chr7:79318840..79409891hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3891052
hg1991052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6612761
Supporting Variants
Samples
Known GenesMIR548M
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234502
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00053


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