A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5565505



Internal ID21513819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30534760..30535063hg38UCSC Ensembl
chr8:30392277..30392580hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17150766
SamplesHG00731
Known GenesRBPMS
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5565505
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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