A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18048105



Internal ID20615145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43481469..43500015hg38UCSC Ensembl
chr19:43985621..44004167hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3818547
hg1918547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6520019
Supporting Variants
Samples
Known GenesPHLDB3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18048105
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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