A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973360



Internal ID22748295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:27791776..27791776hg38UCSC Ensembl
chr17:26118802..26118802hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377683
Samples
Known GenesNOS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973360
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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