A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192849



Internal ID20759889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39034801..39042000hg38UCSC Ensembl
chr13:39608938..39616137hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg387200
hg197200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492126
Supporting Variants
Samples
Known GenesNHLRC3, PROSER1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192849
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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