A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5627676



Internal ID21575981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59804538..59804538hg38UCSC Ensembl
chr5:59100364..59100364hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17157503
SamplesHG00732
Known GenesPDE4D
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5627676
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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