A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18203081



Internal ID20770121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39716070..39847289hg38UCSC Ensembl
chr1:40181742..40312961hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38131220
hg19131220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6334780
Supporting Variants
Samples
Known GenesBMP8B, OXCT2, PPIE, TRIT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18203081
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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