A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943814



Internal ID22719269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44025057..44028566hg38UCSC Ensembl
chr19:44529209..44532719hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg383510
hg193511
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402516
Samples
Known GenesZNF222
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943814
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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