A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17385847



Internal ID22443717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48625162..48625420hg38UCSC Ensembl
chr17:46702524..46702782hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933100
Supporting Variants
Samples
Known GenesHOXB9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17385847
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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