A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205480



Internal ID20772520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135538333..135686477hg38UCSC Ensembl
chr2:136295903..136444047hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg38148145
hg19148145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353720
Supporting Variants
Samples
Known GenesMIR128-1, R3HDM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205480
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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