A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133862



Internal ID18924404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65893686..65893779hg38UCSC Ensembl
Outerchr1:66359369..66359462hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970184
SamplesKWS2
Known GenesPDE4B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133862
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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