A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927785



Internal ID22703016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41808695..41809549hg38UCSC Ensembl
chr17:39964947..39965801hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376777
Samples
Known GenesLEPREL4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927785
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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