A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18045473



Internal ID20612513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2001223..2003202hg38UCSC Ensembl
chr19:2001222..2003201hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381980
hg191980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6528080
Supporting Variants
Samples
Known GenesBTBD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18045473
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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