A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948155



Internal ID22723643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53634207..53634207hg38UCSC Ensembl
chr2:53861344..53861344hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409219
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948155
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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