A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004042



Internal ID16950308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:919631..920451hg38UCSC Ensembl
Outerchr12:1028797..1029617hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38821
hg19821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv957404
Supporting Variants
SamplesBILGI_BIOE
Known GenesRAD52
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004042
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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