A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951466



Internal ID16953653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:124476360..124489759hg38UCSC Ensembl
Outerchr8:125488601..125502000hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3813400
hg1913400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999319
SamplesBILGI_BIOE
Known GenesRNF139, TATDN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951466
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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