A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399147



Internal ID22457017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224974791..224974791hg38UCSC Ensembl
chr2:225839508..225839508hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5951031
Supporting Variants
Samples
Known GenesDOCK10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399147
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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