A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18050377



Internal ID20617417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10483318..10484378hg38UCSC Ensembl
chr1:10543375..10544435hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381061
hg191061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6335417
Supporting Variants
Samples
Known GenesPEX14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18050377
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00104


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