A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972417



Internal ID22747352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49940401..49940401hg38UCSC Ensembl
chr17:48017765..48017765hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389312
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972417
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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