A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998700



Internal ID17291652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:12395092..12479891hg38UCSC Ensembl
Outerchr8:12252601..12337400hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3884800
hg1984800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951106
Supporting Variants
SamplesBILGI_BIOE
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998700
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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