A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627204



Internal ID21575509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119089277..119089277hg38UCSC Ensembl
chr5:118424972..118424972hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17139124
SamplesHG00096
Known GenesDMXL1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627204
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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