A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205166



Internal ID20772206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85180301..85298300hg38UCSC Ensembl
chr1:85645984..85763983hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38118000
hg19118000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330283
Supporting Variants
Samples
Known GenesBCL10, C1orf52, LOC646626, SYDE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205166
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00122


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