A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5927808



Internal ID22703039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42561144..42562949hg38UCSC Ensembl
chr12:42954946..42956751hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381806
hg191806
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358833
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5927808
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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