A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890819



Internal ID168052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153096434..153115488hg38UCSC Ensembl
chr1:153068910..153087964hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3819055
hg1919055
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138299
Supporting Variants
Samples
Known GenesSPRR2F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890819
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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