A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942030



Internal ID22717461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81359532..81359860hg38UCSC Ensembl
chr12:81753311..81753639hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366139
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942030
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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