A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078205



Internal ID18975551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:39033481..39033567hg38UCSC Ensembl
Outerchr14:39502685..39502771hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3771522
SamplesKWP1
Known GenesSEC23A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078205
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