A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16991248



Internal ID61566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167024915..167025002hg38UCSC Ensembl
chr6:167438403..167438490hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458721
Supporting Variants
Samples
Known GenesFGFR1OP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16991248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001873


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