A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327396



Internal ID20860534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247688201..247867900hg38UCSC Ensembl
chr1:247851503..248031202hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38179700
hg19179700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv583n223
Supporting Variantsnssv18201305
Samples
Known GenesOR11L1, OR14A16, OR1C1, OR6F1, TRIM58
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327396
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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