A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975049



Internal ID22749984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58183266..58183266hg38UCSC Ensembl
chr20:56758322..56758322hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401710
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975049
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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