A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206573



Internal ID20773613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121278214..121292276hg38UCSC Ensembl
chr2:122035790..122049852hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3814063
hg1914063
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345865
Supporting Variants
Samples
Known GenesTFCP2L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206573
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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