A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998690



Internal ID17291642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:8195379..8232678hg38UCSC Ensembl
Outerchr8:8052901..8090200hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3837300
hg1937300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951096
Supporting Variants
SamplesBILGI_BIOE
Known GenesFAM86B3P
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998690
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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