A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5848303



Internal ID22623238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42530983..42541343hg38UCSC Ensembl
chr12:42924785..42935145hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810361
hg1910361
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17466493
Samples
Known GenesPRICKLE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5848303
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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