A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936347



Internal ID22711700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50983023..50986545hg38UCSC Ensembl
chr12:51376806..51380328hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383523
hg193523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17356003
Samples
Known GenesSLC11A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936347
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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