A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375412



Internal ID22601081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2152041..2152108hg38UCSC Ensembl
chr16:2202042..2202109hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5941257
Supporting Variants
Samples
Known GenesRAB26
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375412
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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