A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890981



Internal ID168162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157524487..157527789hg38UCSC Ensembl
chr1:157494277..157497579hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg383303
hg193303
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5420716
Supporting Variants
Samples
Known GenesFCRL5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890981
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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