A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15186204



Internal ID21325028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190690012..190690012hg38UCSC Ensembl
chr2:191554738..191554738hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3929811
Supporting Variants
SamplesHG002
Known GenesNAB1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15186204
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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