A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15201357



Internal ID21340171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5595127..5595127hg38UCSC Ensembl
chr5:5595240..5595240hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3945369
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15201357
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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