A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv951093



Internal ID16953280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:7768779..8130078hg38UCSC Ensembl
Outerchr8:7626301..7987600hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38361300
hg19361300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998687
SamplesBILGI_BIOE
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM90A10P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv951093
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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