A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5658230



Internal ID21606535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62398096..62398096hg38UCSC Ensembl
chr17:60475457..60475457hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17095238
SamplesHG03065
Known GenesEFCAB3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5658230
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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