A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202790



Internal ID20769830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248461234..248695001hg38UCSC Ensembl
chr1:248624535..248858302hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38233768
hg19233768
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319287
Supporting Variants
Samples
Known GenesOR14I1, OR2G6, OR2T10, OR2T11, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202790
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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