A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022845



Internal ID18765379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7396757..7778136hg38UCSC Ensembl
Innerchr8:7254279..7635658hg19UCSC Ensembl
Innerchr8:7241689..7673068hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38381380
hg19381380
hg18431380
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6926n100
Supporting Variantsnssv3679618
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022845
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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