A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18009952



Internal ID20576992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:54009227..55519960hg38UCSC Ensembl
chr13:54583362..56094095hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg381510734
hg191510734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475803
Supporting Variants
Samples
Known GenesLINC00458, MIR1297, MIR5007
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18009952
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00011


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