A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961769



Internal ID22736711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130424995..130424995hg38UCSC Ensembl
chr8:131437241..131437241hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435682
Samples
Known GenesASAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961769
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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