A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18009086



Internal ID20576128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43623701..43627300hg38UCSC Ensembl
chr13:44197837..44201436hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480683
Supporting Variants
Samples
Known GenesENOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18009086
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00088


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