A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5628754



Internal ID21577059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58630770..58630770hg38UCSC Ensembl
chr8:59543329..59543329hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg382460
hg192460
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17157391
SamplesHG00731
Known GenesNSMAF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5628754
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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