A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938246



Internal ID22713625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132490859..132508149hg38UCSC Ensembl
chr12:133067445..133084735hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3817291
hg1917291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366143
Samples
Known GenesFBRSL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938246
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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