A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972193



Internal ID22747128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80538022..80538022hg38UCSC Ensembl
chr17:78511822..78511822hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17385782
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972193
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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