A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939238



Internal ID22714628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50255984..50346488hg38UCSC Ensembl
chr12:50649767..50740271hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3890505
hg1990505
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365804
Samples
Known GenesFAM186A, LIMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939238
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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