A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18046716



Internal ID20613756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38184461..38188441hg38UCSC Ensembl
chr19:38675101..38679081hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg383981
hg193981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534229
Supporting Variants
Samples
Known GenesSIPA1L3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18046716
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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