A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998694



Internal ID17291646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:11442292..11457691hg38UCSC Ensembl
Outerchr8:11299801..11315200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3815400
hg1915400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951100
Supporting Variants
SamplesBILGI_BIOE
Known GenesFAM167A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998694
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