A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18099292



Internal ID20666332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:30606501..30606800hg38UCSC Ensembl
chr3:30647993..30648292hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6369417
Supporting Variants
Samples
Known GenesTGFBR2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18099292
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.03743


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