A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189302



Internal ID21328142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:113236266..113236266hg38UCSC Ensembl
chr3:112955113..112955113hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939632
Supporting Variants
SamplesHG002
Known GenesBOC
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189302
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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