A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205214



Internal ID20772254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89126801..89132900hg38UCSC Ensembl
chr1:89592484..89598583hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg386100
hg196100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322769
Supporting Variants
Samples
Known GenesGBP7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205214
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00028


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