A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028464



Internal ID18770995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7890165hg38UCSC Ensembl
Innerchr8:7250368..7747687hg19UCSC Ensembl
Innerchr8:7237778..7785097hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38497320
hg19497320
hg18547320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6911n100
Supporting Variantsnssv3679166
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028464
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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