A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5931991



Internal ID22707283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16959045..16959420hg38UCSC Ensembl
chr19:17069855..17070230hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408269
Samples
Known GenesCPAMD8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5931991
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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