A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18093629



Internal ID20660669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121014201..121015100hg38UCSC Ensembl
chr3:120733048..120733947hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6363465
Supporting Variants
Samples
Known GenesSTXBP5L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18093629
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00045


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