A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216293



Internal ID20783333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:71940025..71947450hg38UCSC Ensembl
chr5:71235852..71243277hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg387426
hg197426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6410521
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216293
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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