A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199745



Internal ID20766785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115691217..115745168hg38UCSC Ensembl
chr1:116233838..116287789hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3853952
hg1953952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6331169
Supporting Variants
Samples
Known GenesCASQ2, VANGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199745
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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