A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17472717



Internal ID22530609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70332903..70350183hg38UCSC Ensembl
chr16:70366806..70384086hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3817281
hg1917281
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5885158
Supporting Variants
Samples
Known GenesDDX19A, DDX19B, LOC100506083
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17472717
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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