A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201327



Internal ID20768367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248339419..248712414hg38UCSC Ensembl
chr1:248502721..248875715hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38372996
hg19372995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6325373
Supporting Variants
Samples
Known GenesOR14C36, OR14I1, OR2G6, OR2T1, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201327
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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