A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951128



Internal ID16953315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:38411783..38418282hg38UCSC Ensembl
Outerchr8:38269301..38275800hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999254
SamplesBILGI_BIOE
Known GenesFGFR1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951128
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