A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17119913



Internal ID21401115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141368665..141368665hg38UCSC Ensembl
chr5:140748232..140748232hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg381073
hg191073
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5638711
Supporting Variants
SamplesHG00096
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGB1, PCDHGB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17119913
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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