A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416804



Internal ID22474674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6616671..6616671hg38UCSC Ensembl
chr5:6616784..6616784hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967183
Supporting Variants
Samples
Known GenesNSUN2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416804
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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