A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5950738



Internal ID22726134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11348653..11348653hg38UCSC Ensembl
chr5:11348765..11348765hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411080
Samples
Known GenesCTNND2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5950738
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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