A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395672



Internal ID22453542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8561417..8561417hg38UCSC Ensembl
chr19:8626301..8626301hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970669
Supporting Variants
Samples
Known GenesMYO1F
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395672
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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