A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937722



Internal ID22713094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82066430..82066487hg38UCSC Ensembl
chr16:82100035..82100092hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385333
Samples
Known GenesHSD17B2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937722
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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