A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946788



Internal ID22722285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1803900..1804569hg38UCSC Ensembl
chr19:1803899..1804568hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405242
Samples
Known GenesATP8B3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946788
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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