A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215401



Internal ID20782441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94757301..94759400hg38UCSC Ensembl
chr4:95678452..95680551hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6389364
Supporting Variants
Samples
Known GenesBMPR1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215401
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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