A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072833



Internal ID18969577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:797399..798100hg38UCSC Ensembl
chr19:797399..798100hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767993
SamplesKWP1
Known GenesPTBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072833
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