A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999284



Internal ID17292236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:55449541..55455140hg38UCSC Ensembl
Outerchr8:56362101..56367700hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951431
Supporting Variants
SamplesBILGI_BIOE
Known GenesSBF1P1, XKR4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999284
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