A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201848



Internal ID21340648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176692542..176692542hg38UCSC Ensembl
chr5:176119543..176119543hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3947782
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201848
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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