A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330158



Internal ID20863312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247693201..247888200hg38UCSC Ensembl
chr1:247856503..248051502hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38195000
hg19195000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv583n223
Supporting Variantsnssv18201308
Samples
Known GenesOR11L1, OR14A16, OR1C1, OR6F1, TRIM58
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330158
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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