A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941480



Internal ID22716904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78201356..78211950hg38UCSC Ensembl
chr17:76197437..76208031hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3810595
hg1910595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380492
Samples
Known GenesAFMID
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941480
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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