A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5626204



Internal ID21574509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27254637..27254637hg38UCSC Ensembl
chr8:27112154..27112154hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17139994
SamplesNA19238
Known GenesSTMN4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5626204
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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