A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147006



Internal ID19199980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:17875494..17875590hg38UCSC Ensembl
Outerchr8:17733003..17733099hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998367
SamplesKWB1
Known GenesFGL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147006
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