A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010276



Internal ID22071907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:86573062..86710541hg38UCSC Ensembl
Outerchr12:86561888..86714516hg38UCSC Ensembl
Innerchr12:86966839..87104318hg19UCSC Ensembl
Outerchr12:86955665..87108293hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38152629
hg19152629
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154846
Supporting Variants
Samples
Known GenesMGAT4C
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010276
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer