A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5640282



Internal ID21588587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143012548..143012548hg38UCSC Ensembl
chr5:142392113..142392113hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137510
SamplesHG00731
Known GenesARHGAP26
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5640282
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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