A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207207



Internal ID20774248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:107694101..107700600hg38UCSC Ensembl
chr3:107412948..107419447hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6370142
Supporting Variants
Samples
Known GenesBBX
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207207
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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