A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886512



Internal ID22661500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42550266..42555883hg38UCSC Ensembl
chr17:40702284..40707901hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg385618
hg195618
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17473798, nssv17473799
Samples
Known GenesHSD17B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886512
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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