A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934219



Internal ID22709541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:47903388..47903683hg38UCSC Ensembl
chr17:45980754..45981049hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372455
Samples
Known GenesLOC100506325, SP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934219
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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