A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4444013



Internal ID22110195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16267190..16268349hg38UCSC Ensembl
chr12:16420124..16421283hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg381160
hg191160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15761439
Samples
Known GenesSLC15A5
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SUBSDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4444013
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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