A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15191902



Internal ID21330769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38854386..38854386hg38UCSC Ensembl
chr12:39248188..39248188hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382180
hg192180
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3954763
Supporting Variants
SamplesHG002
Known GenesCPNE8
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15191902
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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