A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939320



Internal ID22714711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:38803730..38806860hg38UCSC Ensembl
chr12:39197532..39200662hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg383131
hg193131
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351253
Samples
Known GenesCPNE8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939320
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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