A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206342



Internal ID20773382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57588101..57592200hg38UCSC Ensembl
chr2:57815236..57819335hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6336151
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206342
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00055


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