A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929552



Internal ID22704808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9516686..9518764hg38UCSC Ensembl
chr20:9497333..9499411hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg382079
hg192079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393194
Samples
Known GenesLAMP5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929552
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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