A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115072



Internal ID18908009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19000465..19000522hg38UCSC Ensembl
Outerchr8:18857975..18858032hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975377, nssv3957967
SamplesKWS1, KWS2
Known GenesPSD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115072
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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