A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5630477



Internal ID21578782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30388398..30388398hg38UCSC Ensembl
chr8:30245914..30245914hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17146306, nssv17157850, nssv17155925, nssv17158004
SamplesNA19238, HG00731, HG03371
Known GenesRBPMS
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5630477
Frequency
Sample Size35
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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