A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5638498



Internal ID21586803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141407491..141407491hg38UCSC Ensembl
chr5:140787058..140787058hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137975
SamplesHG00732
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5638498
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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