A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942687



Internal ID21362756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42106635..42106635hg38UCSC Ensembl
chr17:40258653..40258653hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15185432
SamplesHG002
Known GenesDHX58
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942687
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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