A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563044



Internal ID335982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70858740..70858791hg38UCSC Ensembl
chr1:71324423..71324474hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907247
Samples
Known GenesPTGER3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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