A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951092



Internal ID16953279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7399279..7764478hg38UCSC Ensembl
Outerchr8:7256801..7622000hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38365200
hg19365200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998686
SamplesBILGI_BIOE
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951092
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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