A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187973



Internal ID21326803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171535514..171535514hg38UCSC Ensembl
chr2:172392024..172392024hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3926143
Supporting Variants
SamplesHG002
Known GenesCYBRD1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187973
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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