A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5937751



Internal ID22713123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42530380..42541589hg38UCSC Ensembl
chr12:42924182..42935391hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3811210
hg1911210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366541
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5937751
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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