A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205502



Internal ID20772542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147987413..148072945hg38UCSC Ensembl
chr2:148744982..148830514hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3885533
hg1985533
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337709
Supporting Variants
Samples
Known GenesMBD5, ORC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205502
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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