A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329511



Internal ID20862663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248027990..248552714hg38UCSC Ensembl
chr1:248191292..248716015hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38524725
hg19524724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv584n223
Supporting Variantsnssv18201320
Samples
Known GenesOR14C36, OR2G6, OR2L13, OR2L2, OR2L3, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T12, OR2T2, OR2T3, OR2T33, OR2T4, OR2T5, OR2T6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329511
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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