A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957424



Internal ID22732542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:104035851..104035851hg38UCSC Ensembl
chr10:105795609..105795609hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353105
Samples
Known GenesCOL17A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957424
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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