A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189849



Internal ID21328699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122934025..122934025hg38UCSC Ensembl
chr3:122652872..122652872hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38880
hg19880
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929090
Supporting Variants
SamplesHG002
Known GenesSEMA5B
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189849
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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