A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199231



Internal ID20766271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108742501..108749400hg38UCSC Ensembl
chr1:109285123..109292022hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327519
Supporting Variants
Samples
Known GenesFNDC7, STXBP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199231
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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