A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538078



Internal ID313243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171648671..171648682hg38UCSC Ensembl
chr1:171617811..171617822hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891903
Samples
Known GenesMYOC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538078
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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