A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204810



Internal ID20771850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:131378639..131594268hg38UCSC Ensembl
chr2:132136212..132351841hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38215630
hg19215630
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348008
Supporting Variants
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204810
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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