A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18051708



Internal ID20618748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115685001..115690200hg38UCSC Ensembl
chr1:116227622..116232821hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg385200
hg195200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317133
Supporting Variants
Samples
Known GenesVANGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18051708
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.11578


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