A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18048122



Internal ID20615162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43750997..43751310hg38UCSC Ensembl
chr19:44255149..44255462hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6527115
Supporting Variants
Samples
Known GenesSMG9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18048122
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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