A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558254



Internal ID331324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153068245..153079145hg38UCSC Ensembl
chr1:153040721..153051621hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3810901
hg1910901
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890812
Samples
Known GenesSPRR2B
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558254
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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