A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18051654



Internal ID20618694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114571551..114573235hg38UCSC Ensembl
chr1:115114172..115115856hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381685
hg191685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319007
Supporting Variants
Samples
Known GenesBCAS2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18051654
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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