A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16899639



Internal ID536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247661000..248560600hg38UCSC Ensembl
chr1:247824302..248723901hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38899601
hg19899600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448739
Supporting Variants
Samples
Known GenesOR11L1, OR13G1, OR14A16, OR14C36, OR1C1, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T12, OR2T2, OR2T29, OR2T3, OR2T33, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, TRIM58
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16899639
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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