A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201316



Internal ID20768356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247906731..248623795hg38UCSC Ensembl
chr1:248070033..248787096hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38717065
hg19717064
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317624
Supporting Variants
Samples
Known GenesOR14C36, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T12, OR2T2, OR2T29, OR2T3, OR2T33, OR2T34, OR2T4, OR2T5, OR2T6, OR2T8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201316
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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