A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991751



Internal ID18876517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:18618180..18618643hg38UCSC Ensembl
Outerchr8:18475690..18476153hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139125
Supporting Variants
SamplesKWS1
Known GenesPSD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991751
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