A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570130



Internal ID21518494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125082761..125082849hg38UCSC Ensembl
chr8:126095003..126095091hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17151720
SamplesHG02587
Known GenesKIAA0196
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570130
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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