A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963673



Internal ID22738608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227230819..227230819hg38UCSC Ensembl
chr1:227418520..227418520hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366554
Samples
Known GenesCDC42BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963673
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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