A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952727



Internal ID22728032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58363341..58363341hg38UCSC Ensembl
chr2:58590476..58590476hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401592
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952727
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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