A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6319287



Internal ID20852380
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 StatusM
Merged Variants
Supporting Variantsnssv18202790
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)nsv6319287
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer