A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016982



Internal ID18759517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7414647..8085648hg38UCSC Ensembl
Innerchr8:7272169..7943170hg19UCSC Ensembl
Innerchr8:7259579..7980580hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38671002
hg19671002
hg18721002
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6912n100
Supporting Variantsnssv3680103
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, 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)nsv1016982
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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