A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216282



Internal ID20783322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6382901..6910600hg38UCSC Ensembl
chr5:6383014..6910713hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38527700
hg19527700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6389335
Supporting Variants
Samples
Known GenesLINC01018, LOC100505625, MIR4278, NSUN2, PAPD7, SRD5A1, UBE2QL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216282
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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