A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194758



Internal ID21333656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:77316703..77316703hg38UCSC Ensembl
chr13:77890838..77890838hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3944159
Supporting Variants
SamplesHG002
Known GenesMYCBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194758
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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