A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627749



Internal ID21576054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11120664..11120664hg38UCSC Ensembl
chr5:11120776..11120776hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17127795
SamplesHG00731
Known GenesCTNND2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627749
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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