A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032374



Internal ID18774908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7783798hg38UCSC Ensembl
Innerchr8:7250368..7641320hg19UCSC Ensembl
Innerchr8:7237778..7678730hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38390953
hg19390953
hg18440953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6926n100
Supporting Variantsnssv3679024
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)nsv1032374
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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