A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998149



Internal ID19187424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:27918644..27918708hg38UCSC Ensembl
Outerchr8:27776161..27776225hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153116
Supporting Variants
SamplesKWB1
Known GenesSCARA5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998149
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