A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020398



Internal ID18762933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7364647..8197726hg38UCSC Ensembl
Innerchr8:7222169..8055248hg19UCSC Ensembl
Innerchr8:7209579..8092658hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38833080
hg19833080
hg18883080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6912n100
Supporting Variantsnssv3678877
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020398
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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