A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945426



Internal ID22720903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62105979..62109907hg38UCSC Ensembl
chr12:62499760..62503688hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg383929
hg193929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367842
Samples
Known GenesFAM19A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945426
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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