A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431703



Internal ID21393705
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 Variantsdgv161n172
Supporting Variantsnssv15748032, nssv15752881, nssv15749796, nssv15748877, nssv15754648, nssv15754190
SamplesSMI034, MDQ010, SMI041, NB07, SMI018, NB09
Known GenesSLC15A5
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431703
Frequency
Sample Size15
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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