A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078333



Internal ID18977734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11240..13941hg38UCSC Ensembl
chr12:91799..94500hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382702
hg192702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770128
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078333
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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