A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944475



Internal ID22719941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4940947..4943312hg38UCSC Ensembl
chr17:4844242..4846607hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg382366
hg192366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381467
Samples
Known GenesRNF167
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944475
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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