A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410718



Internal ID22468588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:79130726..79130726hg38UCSC Ensembl
chr5:78426549..78426549hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5949697
Supporting Variants
Samples
Known GenesBHMT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410718
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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