A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973200



Internal ID22748135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78270790..78270790hg38UCSC Ensembl
chr17:76266871..76266871hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382681
Samples
Known GenesLOC100996291
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973200
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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