A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18012804



Internal ID20579844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72743920..72872088hg38UCSC Ensembl
chr13:73318058..73446226hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg38128169
hg19128169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6479995
Supporting Variants
Samples
Known GenesBORA, DIS3, PIBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18012804
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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