A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431646



Internal ID21393648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122210392..122211077hg38UCSC Ensembl
chr12:122694939..122695624hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15754371, nssv15749542
SamplesMDQ010, MDQ025
Known GenesDIABLO
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431646
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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