A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942005



Internal ID22717436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2761681..2761896hg38UCSC Ensembl
chr19:2761679..2761894hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397722
Samples
Known GenesSGTA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942005
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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